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: 87C>A; Cys29Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: C29X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Tan, Rachel R; Colville, Deb D; Wang, Yan Yan YY; Rigby, Lin L; Savige, Judy J

Publication Date: 2010-01

Variant appearance in text: COL4A5: 87C>A; C29X

PubMed Link: 19965530

Variant Present in the following documents:

• Main text

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