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Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Abdulkareem AA, Zaman Q, Khan H, Khan S, Rehman G, Tariq N, Ahmad M, Owais M, Najumuddin, Muthaffar OY, Bibi F, Khang R, Ryu SW, Naseer MI, Jelani M. Abdulkareem AA, et al. Among authors: ahmad m. Front Genet. 2023 Jun 8;14:1185065. doi: 10.3389/fgene.2023.1185065. eCollection 2023. Front Genet. 2023. PMID: 37359369 Free PMC article.
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q, Khan J, Ahmad M, Khan H, Chaudhary HT, Rehman G, Rahman OU, Shah MM, Hussain J, Jamal Q, Khan BT, Khan MA, Sadeeda, Sahar K, Idrees M, Ahmad R, Faisal MS, Khan MI, Khisroon M, Abdulkareem AA, Lee E, Ryu SW, Bibi N, Muthaffar OY, Jelani M, Naseer MI. Zaman Q, et al. Among authors: ahmad m. Gene. 2024 Feb 5;894:147986. doi: 10.1016/j.gene.2023.147986. Epub 2023 Nov 11. Gene. 2024. PMID: 37956964