Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.T789P
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VWF

NM_000552.5:p.T789P

Associated Papers

Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.

Childers KC et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.

Mufti AH et al.

Blood Advances, 2018

Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.

Ozel AB et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.

Enayat MS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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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."