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Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

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Title: Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.
Authors: Ramzan M; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA., Idrees H; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Khan H; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Faridi R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA., Munir Z; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Muzaffar F; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Shabbir K; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Imtiaz A; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Noman M; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Ahmed A; Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan., Bashir R; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.; Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan., Khan NM; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Maqsood A; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Mujtaba G; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Salman M; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Bukhari I; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Munir HMW; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan., Tariq H; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan., Waqas M; The Department of Zoology, Hazara University, Mansehra, Pakistan., Iqbal MN; The Department of Zoology, Hazara University, Mansehra, Pakistan., Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD, USA., Sobreira N; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD, USA., Morell RJ; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA., Seo GH; Division of Medical Genetics, 3billion Inc., Seoul, South Korea., Inagaki S; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov., Naz S; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan. naz.sbs@pu.edu.pk.
Source: Scientific reports [Sci Rep] 2026 May 05. Date of Electronic Publication: 2026 May 05.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
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  Data: Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.
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  Data: <searchLink fieldCode="AU" term="%22Ramzan+M%22">Ramzan M</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Idrees+H%22">Idrees H</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+H%22">Khan H</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Faridi+R%22">Faridi R</searchLink>; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Munir+Z%22">Munir Z</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Muzaffar+F%22">Muzaffar F</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Shabbir+K%22">Shabbir K</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Imtiaz+A%22">Imtiaz A</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Noman+M%22">Noman M</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ahmed+A%22">Ahmed A</searchLink>; Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Bashir+R%22">Bashir R</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.; Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+NM%22">Khan NM</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Maqsood+A%22">Maqsood A</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mujtaba+G%22">Mujtaba G</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Salman+M%22">Salman M</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Bukhari+I%22">Bukhari I</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Munir+HMW%22">Munir HMW</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Tariq+H%22">Tariq H</searchLink>; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Waqas+M%22">Waqas M</searchLink>; The Department of Zoology, Hazara University, Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+MN%22">Iqbal MN</searchLink>; The Department of Zoology, Hazara University, Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Wohler+E%22">Wohler E</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Witmer+PD%22">Witmer PD</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sobreira+N%22">Sobreira N</searchLink>; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Morell+RJ%22">Morell RJ</searchLink>; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; Division of Medical Genetics, 3billion Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Inagaki+S%22">Inagaki S</searchLink>; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+TB%22">Friedman TB</searchLink>; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov.<br /><searchLink fieldCode="AU" term="%22Naz+S%22">Naz S</searchLink>; School of Biological Sciences, University of the Punjab, Quaid-e- Azam Campus, Lahore, 54590, Pakistan. naz.sbs@pu.edu.pk.
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