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: 2941G>C; Gly981Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications.

Proceedings (Baylor University. Medical Center)

Carter, Jocelyn J; Fenves, Andrew Z AZ

Publication Date: 2017-01

Variant appearance in text: COL3A1: Gly981Arg

PubMed Link: 28127132

Variant Present in the following documents:

• Main text

View BVdb publication page

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: G981R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page