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Medical Bioinformatics

Section edited by Michele Ceccarelli and Raghvendra Mall

© metamorworks / Getty Images / iStockThe explosion of genome sequencing data along with genotype to phenotype correlation studies has created data deluge in the area of biomedical sciences. The aim of the Medical bioinformatics section is to aid the development and maturation of the field by providing a platform for the translation of these datasets into useful clinical applications. The increase in computing capabilities and availability of different data from advanced technologies will allow researchers to build System Biology models of various diseases in order to efficiently develop new therapeutic interventions and reduce the current prohibitively large costs of drug discovery.


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  1. Ischemic stroke is a leading cause of disability and mortality, particularly among the elderly. Recanalization therapies, including thrombolysis and thrombectomy, are essential for restoring blood flow and sav...

    Authors: Alessia Vignoli, Elena Sticchi, Benedetta Piccardi, Vanessa Palumbo, Cristina Sarti, Alessandro Sodero, Francesco Arba, Enrico Fainardi, Anna Maria Gori, Betti Giusti, Ada Kura, Leonardo Tenori and Marzia Baldereschi
    Citation: Journal of Translational Medicine 2025 23:491
    Content type: Research Published on:

  2. Circular RNAs (circRNAs) are a class of non-polyadenylated RNAs generated from back-splicing of genes. Multiple circRNAs can be generated at a single gene locus through alternative back-splicing events (ABS), ...

    Authors: Qianqian Ning, Qian Jin, Lei Zhao, Yudi Wang, Jie Wang, Lili Yang, Ye Han, Qiaoming Zhi, Junnian Zheng, Feifei Chen and Dong Dong
    Citation: Journal of Translational Medicine 2025 23:468
    Content type: Research Published on:

  3. Malignant digestive tract tumors are highly prevalent and fatal tumor types globally, often diagnosed at advanced stages due to atypical early symptoms, causing patients to miss optimal treatment opportunities...

    Authors: Yinhu Gao, Peizhen Wen, Yuan Liu, Yahuang Sun, Hui Qian, Xin Zhang, Huan Peng, Yanli Gao, Cuiyu Li, Zhangyuan Gu, Huajin Zeng, Zhijun Hong, Weijun Wang, Ronglin Yan, Zunqi Hu and Hongbing Fu
    Citation: Journal of Translational Medicine 2025 23:412
    Content type: Review Published on:

  4. Chronic wounds, such as diabetic foot ulcers, venous leg ulcers, and post-surgical wound healing disorders pose a significant challenge due to prolonged healing, risk of infection, and impaired quality of life...

    Authors: Julian-Dario Rembe, Waseem Garabet, Matthias Augustin, Joachim Dissemond, Wiebke Ibing, Hubert Schelzig and Ewa K. Stuermer
    Citation: Journal of Translational Medicine 2025 23:407
    Content type: Research Published on:

  5. The adaptive immunity against Plasmodium vivax is thought to be essential to limit parasite growth during asymptomatic malaria, preventing the occurrence of symptoms. However, the mechanisms governing clinical im...

    Authors: Gregório Guilherme Almeida, Camila Medeiros Costa, Pedro Augusto Carvalho Costa, Gabriela Ribeiro Gomes, Maria Marta Figueiredo, Katherine Jéssica Torres, Alex Fiorini de Carvalho, Bruno Vinícius Santos Valiate, Julia Ramos Sampaio, Brener Cunha Carvalho, Dhelio Batista Pereira, Alexia Martines, Mauro Shugiro Tada, Irene Silva Soares, Jamie Ponmattam, Marcia Caldas de Castro…
    Citation: Journal of Translational Medicine 2025 23:351
    Content type: Research Published on:

  6. Structural variations (SVs) are a pervasive and impactful class of genetic variation within the genome, significantly influencing gene function, impacting human health, and contributing to disease. Recent adva...

    Authors: Taixing Qiu, Jiawei Li, Yan Guo, Limin Jiang and Jijun Tang
    Citation: Journal of Translational Medicine 2025 23:221
    Content type: Research Published on:

  7. Germline mutations in numerous genes, particularly tumor suppressor genes, markedly heighten the risk of various cancers, including lung cancer, which is the leading cause of cancer-related deaths worldwide. D...

    Authors: Ning Zhou, Yuanyuan Xu, Yumin Huang, Guoxiang Ye, Liang Luo and Zuodong Song
    Citation: Journal of Translational Medicine 2025 23:199
    Content type: Research Published on:

  8. Predicting long-term outcomes in liver transplantation remain a challenging endeavor. This research aims to harness the power of deep learning to develop an advanced prognostic model for assessing long-term ou...

    Authors: C. G. Raji, S. S. Vinod Chandra, Noble Gracious, Yamuna R. Pillai and Abhishek Sasidharan
    Citation: Journal of Translational Medicine 2025 23:188
    Content type: Research Published on:

  9. Spinal cord injury (SCI) is a devastating condition that leads to motor, sensory, and autonomic dysfunction. Current therapeutic options remain limited, emphasizing the need for a comprehensive understanding o...

    Authors: Rubén Grillo-Risco, Marta R. Hidalgo, Beatriz Martínez-Rojas, Victoria Moreno-Manzano and Francisco García-García
    Citation: Journal of Translational Medicine 2025 23:160
    Content type: Research Published on:

  11. Acute respiratory distress syndrome (ARDS) is causatively associated with excessive alveolar inflammation involving deregulated pro-inflammatory macrophage polarization. High-density lipoprotein (HDL) showed c...

    Authors: Liu Yang, Zhuo Xu, Zhenyan Wang, Fangping Ding, Zhipeng Wu, Xiaoqian Shi, Jing Wang, Yingmin Ma and Jiawei Jin
    Citation: Journal of Translational Medicine 2025 23:75
    Content type: Research Published on:

  12. Parkinson’s Disease (PD) is a neurodegenerative disorder, and eye movement abnormalities are a significant symptom of its diagnosis. In this paper, we developed a multi-task driven by eye movement in a virtual...

    Authors: Maosong Jiang, Yanzhi Liu, Yanlu Cao, Shufeng Xia, Fei Teng, Wenzhi Zhao, Yongzhong Lin and Wenlong Liu
    Citation: Journal of Translational Medicine 2025 23:65
    Content type: Research Published on:

  14. Microsatellite instability (MSI) is a well-established predictive biomarker for immune checkpoint inhibitor (ICI) response in metastatic colon cancer. Both high MSI and tumor mutational burden (TMB) are marker...

    Authors: Annabella Di Mauro, Mariachiara Santorsola, Giovanni Savarese, Roberto Sirica, Monica Ianniello, Alessia Maria Cossu, Anna Ceccarelli, Francesco Sabbatino, Marco Bocchetti, Anna Chiara Carratù, Francesca Pentimalli, Gerardo Ferrara, Guglielmo Nasti, Michele Caraglia and Alessandro Ottaiano
    Citation: Journal of Translational Medicine 2024 22:1107
    Content type: Research Published on:

    The Correction to this article has been published in Journal of Translational Medicine 2025 23:28

  15. Pediatric lymphoepithelioma-like carcinoma (pLELC) is a rare neoplasm with unclear prognosis, genome, and tumor microenvironment. Our study aims to elucidate its genomic and clinical characteristics.

    Authors: Yi Que, Xiuxia Lu, Suying Lu, Feifei Sun, Jia Zhu, Yu Zhang, Juan Wang, Junting Huang, Wei Liu, Fenghua Wang, Liping Li, Li Zhang, Min Gao, Zijun Zhen and Yizhuo Zhang
    Citation: Journal of Translational Medicine 2024 22:1102
    Content type: Research Published on:

  17. Sepsis, a severe and life-threatening condition arising from a dysfunctional host response to infection, presents considerable challenges to the health care system and is characterized by high mortality rates ...

    Authors: Yixuan Yuan, Yujie Xiao, Jiazhen Zhao, Lixia Zhang, Mengyang Li, Liang Luo, Yanhui Jia, Kejia Wang, Yuxi Chen, Peng Wang, Yuhang Wang, Jingtao Wei, Kuo Shen and Dahai Hu
    Citation: Journal of Translational Medicine 2024 22:1078
    Content type: Review Published on:

  18. For more than 80 years, cystoscopy has been the gold standard for identification of urothelial carcinoma (UCa). Because of many factors, such as pain of the patients during this procedure or the costs involved...

    Authors: Kerstin Lang, Christina U. Köhler, Katharina Wichert, Thomas Deix, Georg Bartsch, Gudrun Sommer, Christiane Lübke, Florian Roghmann, Moritz J. Reike, Harald Krentel, Katja Engellandt, Sven Schiermeier, Valentin Menke, Joachim Noldus, Thomas Behrens, Thomas Brüning…
    Citation: Journal of Translational Medicine 2024 22:1061
    Content type: Research Published on:

  19. Skin cutaneous melanoma (SKCM) poses a significant public health challenge due to its aggressive nature and limited treatment options. To address this, the study introduces the Tumor Mutational Burden-Derived ...

    Authors: Gaohua Li, Tingting Wu, Heping Li, Chuzhong Wei, Yuanbo Sun, Pengcheng Gao, Xinlin Huang, Zining Liu, Jianwei Li, Yanan Wang, Guoxin Li and Lei Fan
    Citation: Journal of Translational Medicine 2024 22:966
    Content type: Research Published on:

  20. The present study aims to develop a nano-delivery system that encapsulates berberine (BBR) into PLGA-based nanoparticles (BPL-NPs), to treat ulcerative colitis (UC). Furthermore, the therapeutic efficacy and m...

    Authors: Chao Liu, Qiming Gong, Wanning Liu, Yihan Zhao, Xinhao Yan and Tao Yang
    Citation: Journal of Translational Medicine 2024 22:963
    Content type: Research Published on:

  21. Recent studies have highlighted the importance of the cell-free DNA (cfDNA) methylation profile in detecting breast cancer (BC) and its different subtypes. We investigated whether plasma cfDNA methylation, usi...

    Authors: Piera Grisolia, Rossella Tufano, Clara Iannarone, Antonio De Falco, Francesca Carlino, Cinzia Graziano, Raffaele Addeo, Marianna Scrima, Francesco Caraglia, Anna Ceccarelli, Pier Vitale Nuzzo, Alessia Maria Cossu, Stefano Forte, Raffaella Giuffrida, Michele Orditura, Michele Caraglia…
    Citation: Journal of Translational Medicine 2024 22:938
    Content type: Research Published on:

  22. To investigate changes in proportions of peripheral blood lymphocyte subsets, the correlation between the lymphocyte subsets and cytokine levels in patients with GluR3B antibody-positive epilepsy, analyze the ...

    Authors: Qingwei Lai, Nuan Wang, Binbin Wang and Yue Chen
    Citation: Journal of Translational Medicine 2024 22:877
    Content type: Research Published on:

  23. In this study, we dynamically monitored the glomerular filtration rate and other assessment of renal function and markers of injury in various mice models of acute kidney injury. Male C57BL/6 mice were utilize...

    Authors: Yu Xin, Yanqi Liu, Linqiong Liu, Xinran Wang, Dawei Wang, Yuchen Song, Lifeng Shen, Yuxi Liu, Yuhan Liu, Yahui Peng, Xibo Wang, Yang Zhou, Hongxu Li, Yuxin Zhou, Pengfei Huang, Mengyao Yuan…
    Citation: Journal of Translational Medicine 2024 22:857
    Content type: Research Published on:

  24. Personalized disease models are crucial for evaluating how diseased cells respond to treatments, especially in case of innovative biological therapeutics. Extracellular vesicles (EVs), nanosized vesicles relea...

    Authors: Adele Tanzi, Lola Buono, Cristina Grange, Corinne Iampietro, Alessia Brossa, Fanny Oliveira Arcolino, Maddalena Arigoni, Raffaele Calogero, Laura Perin, Silvia Deaglio, Elena Levtchenko, Licia Peruzzi and Benedetta Bussolati
    Citation: Journal of Translational Medicine 2024 22:762
    Content type: Research Published on:

  25. During the prolonged period from Human Papillomavirus (HPV) infection to cervical cancer development, Low-Grade Squamous Intraepithelial Lesion (LSIL) stage provides a critical opportunity for cervical cancer ...

    Authors: Simin He, Guiming Zhu, Ying Zhou, Boran Yang, Juping Wang, Zhaoxia Wang and Tong Wang
    Citation: Journal of Translational Medicine 2024 22:686
    Content type: Research Published on:

  26. Urothelial carcinoma (UC) is the second most common urological malignancy. Despite numerous molecular markers have been evaluated during the past decades, no urothelial markers for diagnosis and recurrence mon...

    Authors: Zhicong Yang, Qing Chen, Shihua Dong, Peng Xu, Wanxiang Zheng, Zhanrui Mao, Chengchen Qian, Xiangyi Zheng, Lihe Dai, Chengyang Wang, Haoqing Shi, Jing Li, Jianlin Yuan, Wenqiang Yu and Chuanliang Xu
    Citation: Journal of Translational Medicine 2024 22:608
    Content type: Research Published on:

  27. Infectious meningitis/encephalitis (IM) is a severe neurological disease that can be caused by bacterial, viral, and fungal pathogens. IM suffers high morbidity, mortality, and sequelae in childhood. Metagenom...

    Authors: Zhihao Xing, Hanfang Jiang, Xiaorong Liu, Qiang Chai, Zefeng Xin, Chunqing Zhu, Yanmin Bao, Hongyu Chen, Hongdan Gao and Dongli Ma
    Citation: Journal of Translational Medicine 2024 22:583
    Content type: Research Published on:

  28. Exosomes are nanosized vesicles released from all cells into surrounding biofluids, including cancer cells, and represent a very promising direction in terms of minimally invasive approaches to early disease d...

    Authors: Marco Bocchetti, Amalia Luce, Clara Iannarone, Lucia Stefania Pasquale, Michela Falco, Chiara Tammaro, Marianna Abate, Maria Grazia Ferraro, Raffaele Addeo, Filippo Ricciardiello, Giovanni Motta, Luca De Stefano, Francesco Caraglia, Anna Ceccarelli, Silvia Zappavigna, Marianna Scrima…
    Citation: Journal of Translational Medicine 2024 22:582
    Content type: Research Published on:

  29. The molecular complexity of colorectal cancer poses a significant challenge to the clinical implementation of accurate risk stratification. There is still an urgent need to find better biomarkers to enhance es...

    Authors: Xiangchou Yang, Jieyu Liu, Shuaibin Wang, Wail Hussein Ahmed Al-Ameer, Jingting Ji, Jiaqi Cao, Hassan Mansour S Dhaen, Ying Lin, Yangyang Zhou and Chenguo Zheng
    Citation: Journal of Translational Medicine 2024 22:554
    Content type: Research Published on:

  30. Primary malignant brain tumours are more than one-third of all brain tumours and despite the molecular investigation to identify cancer driver mutations, the current therapeutic options available are challengi...

    Authors: Amalia Luce, Marianna Abate, Giosuè Scognamiglio, Marco Montella, Domenico Iervolino, Severo Campione, Annabella Di Mauro, Orlando Sepe, Vincenzo Gigantino, Madhura S. Tathode, Gerardo Ferrara, Roberto Monaco, Gianfranco De Dominicis, Gabriella Misso, Vittorio Gentile, Renato Franco…
    Citation: Journal of Translational Medicine 2024 22:521
    Content type: Research Published on:

  31. The aim of this study was to conduct an in silico analysis of a novel compound heterozygous variant in breast cancer susceptibility gene 2 (BRCA2) to clarify its structure–function relationship and elucidate t...

    Authors: Jingjing Li, Rui Ge, Guanming Lu, Yuanxuan Cai, Yuan Teng, Zhe Fan, Liangyan Liao, Lingjie Kong, Jinze Zhang, Tao Wei, Qian Li, Tianzhu Long, Hongyan Yu and Jie Li
    Citation: Journal of Translational Medicine 2024 22:484
    Content type: Research Published on:

  32. Osteoarthritis (OA) is a chronic degenerative joint disease causing limited mobility and pain, with no curative treatment available. Recent in vivo studies suggested autonomic alterations during OA progression...

    Authors: Rebecca Sohn, Tina Assar, Isabelle Kaufhold, Marco Brenneis, Sebastian Braun, Marius Junker, Frank Zaucke, Georg Pongratz and Zsuzsa Jenei-Lanzl
    Citation: Journal of Translational Medicine 2024 22:467
    Content type: Research Published on:

  33. Lung adenocarcinoma (LUAD) has been a leading cause of cancer-related mortality worldwide. Early intervention can significantly improve prognosis. DNA methylation could occur in the early stage of tumor. Compr...

    Authors: Junwen Gan, Meng Huang, Weishi Wang, Guining Fu, Mingyuan Hu, Hongcheng Zhong, Xin Ye and Qingdong Cao
    Citation: Journal of Translational Medicine 2024 22:428
    Content type: Research Published on:

  34. Primary testicular lymphoma (PTL) is a rare lymphoma predominantly occurring in the elderly male population. It is characterized by a limited response to treatment and a heightened tendency towards relapse. Hi...

    Authors: Weilong Zhang, Ping Yang, Yaru Yang, Shuozi Liu, Yongdeng Xu, Chaoling Wu, Jing Wang, Cuiling Liu, Hui Liu, Shuangshuang Li, Wei Huang and Hongmei Jing
    Citation: Journal of Translational Medicine 2024 22:414
    Content type: Research Published on:

  35. The specific pathogenesis of UC is still unclear, but it has been clear that defects in intestinal barrier function play an important role in it. There is a temporary lack of specific drugs for clinical treatm...

    Authors: Xinhui Zhang, Fan Zhang, Yan Li, Na Fan, Ke Zhao, Anding Zhang, Jiefang Kang, Yan Lin, Xiaochang Xue and Xun Jiang
    Citation: Journal of Translational Medicine 2024 22:406
    Content type: Research Published on:

  36. Glomerular lesions are the main injuries of diabetic nephropathy (DN) and are used as a crucial index for pathologic classification. Manual quantification of these morphologic features currently used is semi-q...

    Authors: Qunjuan Lei, Xiaoshuai Hou, Xumeng Liu, Dongmei Liang, Yun Fan, Feng Xu, Shaoshan Liang, Dandan Liang, Jing Yang, Guotong Xie, Zhihong Liu and Caihong Zeng
    Citation: Journal of Translational Medicine 2024 22:397
    Content type: Research Published on:

  37. TAS-102 (Lonsurf®) is an oral fluoropyrimidine consisting of a combination of trifluridine (a thymidine analog) and tipiracil (a thymidine phosphorylation inhibitor). The drug is effective in metastatic colorecta...

    Authors: Alessandro Ottaiano, Mariachiara Santorsola, Monica Ianniello, Anna Ceccarelli, Marika Casillo, Francesco Sabbatino, Nadia Petrillo, Marco Cascella, Francesco Caraglia, Carmine Picone, Francesco Perri, Roberto Sirica, Silvia Zappavigna, Guglielmo Nasti, Giovanni Savarese and Michele Caraglia
    Citation: Journal of Translational Medicine 2024 22:379
    Content type: Research Published on:

  38. Bladder cancer (BC) is a very common urinary tract malignancy that has a high incidence and lethality. In this study, we identified BC biomarkers and described a new noninvasive detection method using serum an...

    Authors: Tong Kong, Yang Qu, Taowa Zhao, Zitong Niu, Xiuyi Lv, Yiting Wang, Qiaojiao Ding, Pengyao Wei, Jun Fu, Liang Wang, Jing Gao, Cheng Zhou, Suying Wang, Junhui Jiang, Jianping Zheng, Kaizhe Wang…
    Citation: Journal of Translational Medicine 2024 22:314
    Content type: Research Published on:

  39. Due to their complexity and to the presence of common clinical features, differentiation between asthma and chronic obstructive pulmonary disease (COPD) can be a challenging task, complicated in such cases als...

    Authors: Serena Correnti, Mariaimmacolata Preianò, Fabia Gamboni, Daniel Stephenson, Corrado Pelaia, Girolamo Pelaia, Rocco Savino, Angelo D’Alessandro and Rosa Terracciano
    Citation: Journal of Translational Medicine 2024 22:301
    Content type: Research Published on:

    The Publisher Correction to this article has been published in Journal of Translational Medicine 2024 22:334

  40. Psoriasis is a chronic inflammatory disorder characterized by pathogenic hyperproliferation of keratinocytes and immune dysregulation. Currently, objective evaluation tools reflecting the severity of psoriasis...

    Authors: Young Joon Park, Dong Chan Kim, Soo-Jin Lee, Han Seul Kim, Ji Young Pak, Junho Kim, Jae Youn Cheong and Eun-So Lee
    Citation: Journal of Translational Medicine 2024 22:235
    Content type: Research Published on:

  41. UBXD family (UBXDF), a group of proteins containing ubiquitin regulatory X (UBX) domains, play a crucial role in the imbalance of proliferation and apoptotic in cancer. In this study, we summarised bioinformat...

    Authors: Enyu Yang, Xiaowei Fan, Haihan Ye, Xiaoyang Sun, Qing Ji, Qianyun Ding, Shulian Zhong, Shuo Zhao, Cheng Xuan, Meiyu Fang, Xianfeng Ding and Jun Cao
    Citation: Journal of Translational Medicine 2024 22:157
    Content type: Review Published on:

  43. Tumor mutational burden (TMB) has been demonstrated to predict the response to immune checkpoint inhibitors (ICIs) in various cancers. However, the role of TMB in head and neck squamous cell carcinoma (HNSCC) ...

    Authors: Juan P. Rodrigo, Mario Sánchez-Canteli, María Otero-Rosales, Pablo Martínez-Camblor, Francisco Hermida-Prado and Juana M. García-Pedrero
    Citation: Journal of Translational Medicine 2024 22:135
    Content type: Review Published on:

  44. Asthma is a chronic respiratory disease affecting millions of people worldwide, but early detection can be challenging due to the time-consuming nature of the traditional technique. Machine learning has shown ...

    Authors: Dejing Li, Stanley Ebhohimhen Abhadiomhen, Dongmei Zhou, Xiang-Jun Shen, Lei Shi and Yubao Cui
    Citation: Journal of Translational Medicine 2024 22:100
    Content type: Research Published on:

  45. Characterizing cancer molecular subtypes is crucial for improving prognosis and individualized treatment. Integrative analysis of multi-omics data has become an important approach for disease subtyping, yieldi...

    Authors: Xin Duan, Xinnan Ding and Zhuanzhe Zhao
    Citation: Journal of Translational Medicine 2024 22:79
    Content type: Research Published on:

  46. The current therapeutic algorithm for Advanced Stage Melanoma comprises of alternating lines of Targeted and Immuno-therapy, mostly via Immune-Checkpoint blockade. While Comprehensive Genomic Profiling of soli...

    Authors: Matteo Pallocca, Ivan Molineris, Enrico Berrino, Benedetta Marcozzi, Martina Betti, Lauretta Levati, Stefania D’Atri, Chiara Menin, Gabriele Madonna, Paola Ghiorzo, Jenny Bulgarelli, Virgina Ferraresi, Tiziana Venesio, Monica Rodolfo, Licia Rivoltini, Luisa Lanfrancone…
    Citation: Journal of Translational Medicine 2024 22:29
    Content type: Research Published on:

    The Correction to this article has been published in Journal of Translational Medicine 2024 22:958

  47. No residual disease (R0 resection) after debulking surgery is the most critical independent prognostic factor for advanced ovarian cancer (AOC). There is an unmet clinical need for selecting primary or interva...

    Authors: Xiaofang Zhou, Mu Liu, Lijuan Sun, Yumei Cao, Shanmei Tan, Guangxia Luo, Tingting Liu, Ying Yao, Wangli Xiao, Ziqing Wan and Jie Tang
    Citation: Journal of Translational Medicine 2023 21:927
    Content type: Research Published on:

  48. Early microbial exposure is associate with protective allergic asthma. We have previously demonstrated that Streptococcus pneumoniae aminopeptidase N (PepN), one of the pneumococcal components, inhibits ovalbumin...

    Authors: Shifei Yao, Danlin Weng, Yan Wang, Yanyu Zhang, Qi Huang, Kaifeng Wu, Honghui Li, Xuemei Zhang, Yibing Yin and Wenchun Xu
    Citation: Journal of Translational Medicine 2023 21:898
    Content type: Research Published on:

  50. Machine learning (ML) represents a powerful tool to capture relationships between molecular alterations and cancer types and to extract biological information. Here, we developed a plain ML model aimed at dist...

    Authors: Veronica Zelli, Andrea Manno, Chiara Compagnoni, Rasheed Oyewole Ibraheem, Francesca Zazzeroni, Edoardo Alesse, Fabrizio Rossi, Claudio Arbib and Alessandra Tessitore
    Citation: Journal of Translational Medicine 2023 21:836
    Content type: Research Published on:
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