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Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

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Title: Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.
Authors: Lin PH; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan.; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan., Tsai CY; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan., Chiang YT; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan., Ho CH; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan., Lu YS; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan., Cheng YF; Department of Medical Research, Taipei Veterans General Hospital, Taipei, 112062, Taiwan.; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, 112201, Taiwan.; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, National Yang Ming Chiao Tung University, Taipei, 112304, 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 Chiao Tung University, Taipei, 112304, Taiwan., Hsu CJ; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung, 427003, Taiwan., Chen PL; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan. paylong@ntu.edu.tw.; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, 100225, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100226, Taiwan. paylong@ntu.edu.tw., Wu CC; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, 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] 2025 May 09; Vol. 31 (1), pp. 181. Date of Electronic Publication: 2025 May 09.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.
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  Data: <searchLink fieldCode="AU" term="%22Lin+PH%22">Lin PH</searchLink>; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan.; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tsai+CY%22">Tsai CY</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chiang+YT%22">Chiang YT</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ho+CH%22">Ho CH</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lu+YS%22">Lu YS</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Cheng+YF%22">Cheng YF</searchLink>; Department of Medical Research, Taipei Veterans General Hospital, Taipei, 112062, Taiwan.; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, 112201, Taiwan.; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, National Yang Ming Chiao Tung University, Taipei, 112304, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tsai+SF%22">Tsai SF</searchLink>; 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 Chiao Tung University, Taipei, 112304, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+CJ%22">Hsu CJ</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, Taiwan.; Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung, 427003, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 100233, Taiwan. paylong@ntu.edu.tw.; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, 100225, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100226, Taiwan. paylong@ntu.edu.tw.<br /><searchLink fieldCode="AU" term="%22Wu+CC%22">Wu CC</searchLink>; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 100229, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100225, 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.
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        Value: 10.1186/s10020-025-01225-2
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      – TitleFull: Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.
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              Text: 2025 May 09
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