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: 2815G>A; Gly939Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

American Journal Of Medical Genetics. Part A

Yamaguchi, Tomomi T; Hayashi, Shujiro S; Hayashi, Daisuke D; Matsuyama, Takeshi T; Koitabashi, Norimichi N; Ogiwara, Kenichi K; Noda, Masaaki M; Nakada, Chiai C; Fujiki, Shinya S; Furutachi, Akira A; Tanabe, Yasuhiko Y; Yamanaka, Michiko M; Ishikawa, Aki A; Mizukami, Miyako M; Mizuguchi, Asako A; Sugiura, Kazumitsu K; Sumi, Makoto M; Yamazawa, Hirokuni H; Izawa, Atsushi A; Wada, Yuko Y; Fujikawa, Tomomi T; Takiguchi, Yuri Y; Wakui, Keiko K; Takano, Kyoko K; Nishio, Shin-Ya SY; Kosho, Tomoki T

Publication Date: 2022-10-03

Variant appearance in text: COL3A1: 2815G>A; Gly939Ser

PubMed Link: 36189931

Variant Present in the following documents:

• Main text
• AJMG-191-37.pdf

View BVdb publication page

Surgical Management of Colonic Perforation in a Patient with Vascular Ehlers-Danlos Syndrome with no Family History: A Case Report.

Journal Of The Anus, Rectum And Colon

Kanaka, Shintaro S; Yamada, Takeshi T; Matsuda, Akihisa A; Takahashi, Goro G; Hara, Keisuke K; Yoshida, Hiroshi H

Publication Date: 2020

Variant appearance in text: COL3A1: G939S

PubMed Link: 33134602

Variant Present in the following documents:

• Main text
• 2432-3853-4-0201.pdf

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: G939S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page