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: 440del; Gly147Aspfs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.

Molecular Genetics & Genomic Medicine

Shang, Shunlai S; Peng, Fei F; Wang, Tao T; Wu, Xiaoyuan X; Li, Ping P; Li, Qinggang Q; Chen, Xiang M XM

Publication Date: 2019-07

Variant appearance in text: COL4A5: 440del; Gly147fs

PubMed Link: 31144478

Variant Present in the following documents:

• Main text
• MGG3-7-e00741.pdf

View BVdb publication page