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: SMARCA4: 1754_1757del; Lys585fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Gynecologic Oncology

Connor, Yamicia D YD; Miao, Diana D; Lin, Douglas I DI; Hayne, Cynthia C; Howitt, Brooke E BE; Dalrymple, John L JL; DeLeonardis, Kimberly R KR; Hacker, Michele R MR; Esselen, Katharine M KM; Shea, Meghan M

Publication Date: 2020-04

Variant appearance in text: SMARCA4: Lys585fs*27

PubMed Link: 31954538

Variant Present in the following documents:

• Main text

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