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Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.

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Title: Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.
Authors: Ayaz M; Centre of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan.; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Khan I; Centre of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan., Ahmed S; Department of Biochemistry, Hazara University, Mansehra, Pakistan., Bibi N; Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, Pakistan., Abid MA; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Rehman A; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Turchetti V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Rahman AU; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.; Molecular Diagnostics Lab, Rehman Medical Institute, Peshawar, Pakistan., Khan H; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.; Genomics, Phenomics, and Bioinformatics Program, North Dakota State University, Fargo, USA., Nabi D; Neurology Department, Hayatabad Medical Complex, Peshawar, Pakistan., Khan V; Molecular Diagnostics Lab, Rehman Medical Institute, Peshawar, Pakistan., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Ilyas M; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan. milyaskh@hotmail.com.
Source: Neurogenetics [Neurogenetics] 2026 Jun 29; Vol. 27 (1). Date of Electronic Publication: 2026 Jun 29.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.
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  Data: <searchLink fieldCode="AU" term="%22Ayaz+M%22">Ayaz M</searchLink>; Centre of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan.; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+I%22">Khan I</searchLink>; Centre of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ahmed+S%22">Ahmed S</searchLink>; Department of Biochemistry, Hazara University, Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Bibi+N%22">Bibi N</searchLink>; Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Abid+MA%22">Abid MA</searchLink>; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Rehman+A%22">Rehman A</searchLink>; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rahman+AU%22">Rahman AU</searchLink>; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.; Molecular Diagnostics Lab, Rehman Medical Institute, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+H%22">Khan H</searchLink>; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan.; Genomics, Phenomics, and Bioinformatics Program, North Dakota State University, Fargo, USA.<br /><searchLink fieldCode="AU" term="%22Nabi+D%22">Nabi D</searchLink>; Neurology Department, Hayatabad Medical Complex, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+V%22">Khan V</searchLink>; Molecular Diagnostics Lab, Rehman Medical Institute, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Ilyas+M%22">Ilyas M</searchLink>; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan. milyaskh@hotmail.com.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2026 Jun 29; Vol. 27 (1). <i>Date of Electronic Publication: </i>2026 Jun 29.
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