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: 3854C>T; Ser1285Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: VWF: S1285F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal Of Molecular Biology

Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M

Publication Date: 2020-01-17

Variant appearance in text: VWF: S1285F

PubMed Link: 31628947

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The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology

Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M

Publication Date: 2017-01-06

Variant appearance in text: VWF: S1285F

PubMed Link: 27889474

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• Main text

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Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Biophysical Journal

Zimmermann, Michael T MT; Tischer, Alexander A; Whitten, Steven T ST; Auton, Matthew M

Publication Date: 2015-07-21

Variant appearance in text: VWF: S1285F

PubMed Link: 26200876

Variant Present in the following documents:

• Main text

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