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: COL4A5: 834+5G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.

European Journal Of Human Genetics : Ejhg

Zhang, Yanqin Y; Ding, Jie J; Wang, Suxia S; Zhang, Hongwen H; Zhong, Xuhui X; Liu, Xiaoyu X; Xu, Ke K; Wang, Fang F

Publication Date: 2020-02

Variant appearance in text: COL4A5: 834+5G>A

PubMed Link: 31576025

Variant Present in the following documents:

• Main text
• 41431_2019_Article_523.pdf

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