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: NF1: 7186A>T; Lys2396Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Ewing sarcoma in a child with neurofibromatosis type 1.

Cold Spring Harbor Molecular Case Studies

Fernandez, Karen S KS; Turski, Michelle L ML; Shah, Avanthi Tayi AT; Bastian, Boris C BC; Horvai, Andrew A; Hardee, Steven S; Sweet-Cordero, E Alejandro EA

Publication Date: 2019-10

Variant appearance in text: NF1: 7186A>T; K2396*

PubMed Link: 31645347

Variant Present in the following documents:

• Main text
• MCS004580Fer.pdf

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