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: 1786C>T; Arg596Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.

Blood Cancer Journal

Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Díaz Arias, José Ángel JÁ; Bello López, José Luis JL

Publication Date: 2019-09-30

Variant appearance in text: COL3A1: 1786C>T; R596*; rs587779527

PubMed Link: 31570692

Variant Present in the following documents:

• 41408_2019_243_MOESM1_ESM.xlsx, sheet 1

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Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

European Journal Of Human Genetics : Ejhg

Jørgensen, Agnete A; Fagerheim, Toril T; Rand-Hendriksen, Svend S; Lunde, Per I PI; Vorren, Torgrim O TO; Pepin, Melanie G MG; Leistritz, Dru F DF; Byers, Peter H PH

Publication Date: 2015-06

Variant appearance in text: COL3A1: Arg596*

PubMed Link: 25205403

Variant Present in the following documents:

• Main text
• ejhg2014181a.pdf

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