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
Database: MEDLINE Ultimate
Description
ISSN:2045-2322
DOI:10.1038/s41598-026-48515-1