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: 211T>A; Trp71Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.

Structure (London, England : 1993)

Yadin, David A DA; Robertson, Ian B IB; McNaught-Davis, Joanne J; Evans, Paul P; Stoddart, David D; Handford, Penny A PA; Jensen, Sacha A SA; Redfield, Christina C

Publication Date: 2013-10-08

Variant appearance in text: FBN1: W71R

PubMed Link: 24035709

Variant Present in the following documents:

• Main text
• main.pdf

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