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: FBN1: 1035C>A; Cys345Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Genome Medicine

Zhu, Na N; Welch, Carrie L CL; Wang, Jiayao J; Allen, Philip M PM; Gonzaga-Jauregui, Claudia C; Ma, Lijiang L; King, Alejandra K AK; Krishnan, Usha U; Rosenzweig, Erika B EB; Ivy, D Dunbar DD; Austin, Eric D ED; Hamid, Rizwan R; Pauciulo, Michael W MW; Lutz, Katie A KA; Nichols, William C WC; Reid, Jeffrey G JG; Overton, John D JD; Baras, Aris A; Dewey, Frederick E FE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2018-07-20

Variant appearance in text: FBN1: C345X

PubMed Link: 30029678

Variant Present in the following documents:

• 13073_2018_566_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page