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: 2477del; Pro826fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular testing for adult type Alport syndrome.

Bmc Nephrology

Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E

Publication Date: 2009-11-17

Variant appearance in text: COL4A5: 2476delC

PubMed Link: 19919694

Variant Present in the following documents:

• Main text

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