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: COL3A1: 3176G>T; Gly1059Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.

Internal Medicine (Tokyo, Japan)

Sakai, Kosuke K; Toda, Maiko M; Kyoyama, Hiroyuki H; Nishimura, Hiroaki H; Kojima, Akitoshi A; Kuwabara, Yoshiki Y; Kobayashi, Yumiko Y; Kikuchi, Satoshi S; Hirata, Yusuke Y; Moriyama, Gaku G; Watanabe, Wataru W; Akutsu, Koichi K; Nakai, Maki M; Yamada, Takeshi T; Gemma, Akihiko A; Uematsu, Kazutsugu K

Publication Date: 2019-12-01

Variant appearance in text: COL3A1: 3176G>T

PubMed Link: 31391389

Variant Present in the following documents:

• Main text
• 1349-7235-58-3441.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: COL3A1: G1059V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page