Publications:

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: SCN1A: 4973C>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

Journal Of Medical Case Reports

Sahli, Maryem M; Zrhidri, Abdelali A; Elaloui, Siham Chafai SC; Smaili, Wiam W; Lyahyai, Jaber J; Oudghiri, Fatima Zohra FZ; Sefiani, Abdelaziz A

Publication Date: 2019-08-23

Variant appearance in text: SCN1A: 4973C>A; Thr1658Lys

PubMed Link: 31439038

Variant Present in the following documents:

• Main text
• 13256_2019_Article_2203.pdf

View BVdb publication page