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: ATM: 3244_3245insG; His1082fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A new ataxia-telangiectasia mutation in an 11-year-old female.

Immunogenetics

Mortaz, Esmaeil E; Marashian, Sayed Mehran SM; Ghaffaripour, Hosseinali H; Varahram, Mohammad M; Mehrian, Payam P; Dorudinia, Atosa A; Garssen, Johan J; Adcock, Ian M IM; Taylor, Malcolm M; Mahdaviani, Seyed Alireza SA

Publication Date: 2017-07

Variant appearance in text: ATM: 3244_3245insG; His1082fs

PubMed Link: 28488180

Variant Present in the following documents:

• Main text
• 251_2017_Article_983.pdf

View BVdb publication page