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: F8: 984T>G; Phe328Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: F328L

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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SEC23B is required for the maintenance of murine professional secretory tissues.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tao, Jiayi J; Zhu, Min M; Wang, He H; Afelik, Solomon S; Vasievich, Matthew P MP; Chen, Xiao-Wei XW; Zhu, Guojing G; Jensen, Jan J; Ginsburg, David D; Zhang, Bin B

Publication Date: 2012-07-17

Variant appearance in text: FVIII: F328L

PubMed Link: 22745161

Variant Present in the following documents:

• Main text

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