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: RYR1: 4496_4497del; Phe1499fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Molecular Genetics & Genomic Medicine

Park, Jihye J; Oh, Hyun Mi HM; Park, Hye Jung HJ; Cho, Ah-Ra AR; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Jang, Dae-Hyun DH

Publication Date: 2019-10

Variant appearance in text: RYR1: 4496_4497delTT; Phe1499Cysfs*47

PubMed Link: 31475473

Variant Present in the following documents:

• Main text
• MGG3-7-e00947.pdf

View BVdb publication page