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: 1948+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

European Journal Of Human Genetics : Ejhg

Fu, Xue Jun XJ; Nozu, Kandai K; Kaito, Hiroshi H; Ninchoji, Takeshi T; Morisada, Naoya N; Nakanishi, Koichi K; Yoshikawa, Norishige N; Ohtsubo, Hiromi H; Matsunoshita, Natsuki N; Kamiyoshi, Naohiro N; Matsumura, Chieko C; Takagi, Nobuaki N; Maekawa, Kohei K; Taniguchi-Ikeda, Mariko M; Iijima, Kazumoto K

Publication Date: 2016-03

Variant appearance in text: COL4A5: 1948+1G>A

PubMed Link: 26014433

Variant Present in the following documents:

• Main text

View BVdb publication page