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: 400T>G; Cys134Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

Genes & Cancer

Vijayakumar, Sapna S; Liu, Guizhong G; Wen, Huei-Chi HC; Abu, Yaa Y; Chong, Robert R; Nastri, Horacio H; Bornstein, Gadi G GG; Pan, Zhen-Qiang ZQ; Aaronson, Stuart A SA

Publication Date: 2017-07

Variant appearance in text: LDLR: C134G

PubMed Link: 28966723

Variant Present in the following documents:

• Main text

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