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: 3289A>T; Lys1097Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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: K1097X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

Temporal macular thinning associated with X-linked Alport syndrome.

Jama Ophthalmology

Ahmed, Faisal F; Kamae, Kandon K KK; Jones, Denise J DJ; Deangelis, Margaret M MM; Hageman, Gregory S GS; Gregory, Martin C MC; Bernstein, Paul S PS

Publication Date: 2013-06

Variant appearance in text: COL4A5: K1097X

PubMed Link: 23572034

Variant Present in the following documents:

• Main text

View BVdb publication page