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: LDLR: 505_511del; Asn169fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Frontiers In Genetics

Rimbert, Antoine A; Daggag, Hinda H; Lansberg, Peter P; Buckley, Adam A; Viel, Martijn M; Kanninga, Roan R; Johansson, Lennart L; Dullaart, Robin P F RPF; Sinke, Richard R; Al Tikriti, Alia A; Kuivenhoven, Jan Albert JA; Barakat, Maha Taysir MT

Publication Date: 2021

Variant appearance in text: LDLR: 505_511delAACGACC; Asn169fs

PubMed Link: 35047021

Variant Present in the following documents:

• Main text
• fgene-12-809256.pdf

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