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: KCNH2: 1815del; Ser606fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Long QT syndrome with potassium voltage-gated channel subfamily H member 2 gene mutation mimicking refractory epilepsy: case report.

Bmc Neurology

Kang, Huicong H; Lan, Lili L; Jia, Yuchao Y; Li, Cun C; Fang, Yongkang Y; Zhu, Suiqiang S; Kirsch, Heidi H

Publication Date: 2021-09-04

Variant appearance in text: KCNH2: 1815delC

PubMed Link: 34481479

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2365.pdf

View BVdb publication page