Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

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Title: Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.
Authors: Tsai CY; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan., Lu YS; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan., Chiang YT; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan., Lo MY; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan., Lin PH; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan., Tsai SF; Institute of Molecular and Genomic Medicine, National Health Research Institute, Miaoli, 350401, Taiwan.; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, 112304, Taiwan., Hsu CJ; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung, 427003, Taiwan., Chen PL; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan.; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, 100225, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100226, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan. jacobhsu@ntu.edu.tw., Wu CC; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan. chenchiwu@ntuh.gov.tw.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Otolaryngology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw.
Source: Molecular medicine (Cambridge, Mass.) [Mol Med] 2026 Jul 13. Date of Electronic Publication: 2026 Jul 13.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1528-3658
DOI:10.1186/s10020-026-01553-x