Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.
Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24
Variant appearance in text: CHRNB2: 923T>C; Val308Ala
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CHRNB2: 923T>C; Val308Ala
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine
Sanchis-Juan, Alba A; Hasenahuer, Marcia A MA; Baker, James A JA; McTague, Amy A; Barwick, Katy K; Kurian, Manju A MA; Duarte, Sofia T ST; , ; Carss, Keren J KJ; Thornton, Janet J; Raymond, F Lucy FL
Publication Date: 2020-07
Variant appearance in text: CHRNB2: Val308Ala; rs281865070