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: 3554G>T; Gly1185Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).

Molecular Genetics & Genomic Medicine

Yang, Fang F; Yang, Rong-Juan RJ; Li, Qian Q; Zhang, Jing J; Meng, Yan-Xin YX; Liu, Xiao-Jun XJ; Yao, Yong-Feng YF

Publication Date: 2022-03

Variant appearance in text: COL3A1: 3554G>T; G1185V

PubMed Link: 35119775

Variant Present in the following documents:

• Main text
• MGG3-10-e1885.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: COL3A1: G1185V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page