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Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.

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Title: Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.
Authors: Ahmad SR; Hiralal Mazumdar Memorial College for Women, West Bengal State University, Kolkata, West Bengal, India. professor.rehaan@gmail.com., Zeyaullah M; Department of Basic Medical Science, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Zahrani Y; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Altijani AAG; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Dawria A; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Salih A; Department of Public Health, College of Health Sciences, Saudi Electronic University, Dammam, Saudi Arabia.
Source: Journal of human genetics [J Hum Genet] 2025 Nov; Vol. 70 (11), pp. 577-587. Date of Electronic Publication: 2025 Aug 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Ahmad+SR%22">Ahmad SR</searchLink>; Hiralal Mazumdar Memorial College for Women, West Bengal State University, Kolkata, West Bengal, India. professor.rehaan@gmail.com.<br /><searchLink fieldCode="AU" term="%22Zeyaullah+M%22">Zeyaullah M</searchLink>; Department of Basic Medical Science, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Zahrani+Y%22">Zahrani Y</searchLink>; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Altijani+AAG%22">Altijani AAG</searchLink>; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Dawria+A%22">Dawria A</searchLink>; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Salih+A%22">Salih A</searchLink>; Department of Public Health, College of Health Sciences, Saudi Electronic University, Dammam, Saudi Arabia.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2025 Nov; Vol. 70 (11), pp. 577-587. <i>Date of Electronic Publication: </i>2025 Aug 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1038/s10038-025-01386-2
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      – Code: eng
        Text: English
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        StartPage: 577
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      – TitleFull: Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.
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              Text: 2025 Nov
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              Y: 2025
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              Value: 11
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