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: 2782C>T; Gln928Ter

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: Q928X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.

Bmc Medical Genetics

Liu, Wei W; Wong, John K L JK; He, Qiuming Q; Wong, Emily H M EH; Tang, Clara S M CS; Zhang, Ruizhong R; So, Man-Ting MT; Wong, Kenneth K Y KK; Nicholls, John J; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K PK; Garcia-Barcelo, Maria-Mercè MM; Xia, Huimin H

Publication Date: 2015-07-16

Variant appearance in text: COL4A5: 2782C>T

PubMed Link: 26179878

Variant Present in the following documents:

• Main text
• 12881_2015_Article_189.pdf

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