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: VWF: 7352G>A; Cys2451Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: VWF: C2451Y

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood

Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,

Publication Date: 2013-08-01

Variant appearance in text: VWF: 7352G>A; C2451Y

PubMed Link: 23777763

Variant Present in the following documents:

• Main text

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