Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1387I
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VWF

NM_000552.5:p.S1387I

Associated Papers

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 2017

Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Larsen DM et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

Translational medicine advances in von Willebrand disease.

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2013

The molecular characterization of von Willebrand disease: good in parts.

James PD et al.

British Journal of Haematology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."