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: COL3A1: 2569C>T; Gln857Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Müller, Gerd A GA; Hansen, Uwe U; Xu, Zhi Z; Griswold, Benjamin B; Talan, Mark I MI; McDonnell, Nazli B NB; Briest, Wilfried W

Publication Date: 2012-02

Variant appearance in text: COL3A1: 2569C>T; Q857X

PubMed Link: 22038052

Variant Present in the following documents:

• Main text

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