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: 3158G>A; Gly1053Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Orphanet Journal Of Rare Diseases

Adham, Salma S; Trystram, Denis D; Albuisson, Juliette J; Domigo, Valérie V; Legrand, Anne A; Jeunemaitre, Xavier X; Frank, Michael M

Publication Date: 2018-06-25

Variant appearance in text: COL3A1: 3158G>A

PubMed Link: 29940997

Variant Present in the following documents:

• Main text
• 13023_2018_Article_842.pdf

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