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. |
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| 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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