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A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.

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Title: A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
Authors: Ahmad F; Department of Biochemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan. farooq.ahmad@wus.edu.pk., Mahmood A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, Caserta,, 81100, Italy., Almazni IA; Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, P.O. Box 1988, 61441, Najran, Saudi Arabia., Shakoori AM; Department of Clinical Laboratory sciences, Faculty of Applied Medical Sciences, Umm Al- Qura University, 21955, Makkah, Kingdom of Saudi Arabia., Alhakami F; Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, 45142, Jazan, Saudi Arabia., Alam Q; Molecular Genomics and Precision Medicine Department, ExpressMed Diagnostics and Research, 358, 359, 360, Zinj, Kingdom of Bahrain., Ismail M; Department of Chemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard Health Affairs (MNGH), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, 11426, Saudi Arabia. umairmu@ngha.med.sa.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, 54770, Pakistan. umairmu@ngha.med.sa.
Source: Genes & genomics [Genes Genomics] 2025 Apr; Vol. 47 (4), pp. 417-423. Date of Electronic Publication: 2024 Oct 24.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
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  Data: <searchLink fieldCode="AU" term="%22Ahmad+F%22">Ahmad F</searchLink>; Department of Biochemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan. farooq.ahmad@wus.edu.pk.<br /><searchLink fieldCode="AU" term="%22Mahmood+A%22">Mahmood A</searchLink>; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, Caserta,, 81100, Italy.<br /><searchLink fieldCode="AU" term="%22Almazni+IA%22">Almazni IA</searchLink>; Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, P.O. Box 1988, 61441, Najran, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Shakoori+AM%22">Shakoori AM</searchLink>; Department of Clinical Laboratory sciences, Faculty of Applied Medical Sciences, Umm Al- Qura University, 21955, Makkah, Kingdom of Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alhakami+F%22">Alhakami F</searchLink>; Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, 45142, Jazan, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alam+Q%22">Alam Q</searchLink>; Molecular Genomics and Precision Medicine Department, ExpressMed Diagnostics and Research, 358, 359, 360, Zinj, Kingdom of Bahrain.<br /><searchLink fieldCode="AU" term="%22Ismail+M%22">Ismail M</searchLink>; Department of Chemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan.<br /><searchLink fieldCode="AU" term="%22Umair+M%22">Umair M</searchLink>; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard Health Affairs (MNGH), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, 11426, Saudi Arabia. umairmu@ngha.med.sa.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, 54770, Pakistan. umairmu@ngha.med.sa.
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  Data: <searchLink fieldCode="JN" term="%22101481027%22">Genes & genomics</searchLink> [Genes Genomics] 2025 Apr; Vol. 47 (4), pp. 417-423. <i>Date of Electronic Publication: </i>2024 Oct 24.
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  Data: Journal Article; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22The+Korean+Society+of+Genetics%22">The Korean Society of Genetics </searchLink><i>Country of Publication: </i>Korea (South) <i>NLM ID: </i>101481027 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2092-9293 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219769571%22">19769571 </searchLink><i>NLM ISO Abbreviation: </i>Genes Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39446282
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        Value: 10.1007/s13258-024-01590-y
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      – Code: eng
        Text: English
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      – TitleFull: A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
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            – D: 01
              M: 04
              Text: 2025 Apr
              Type: published
              Y: 2025
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