Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q1734H
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VWF

NM_000552.5:p.Q1734H

Associated Papers

Interaction of von Willebrand factor domains with collagen investigated by single molecule force spectroscopy.

Posch S et al.

The Journal of Chemical Physics, 2018

Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Flood VH et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

von Willebrand factor A1 domain can adequately substitute for A3 domain in recruitment of flowing platelets to collagen.

Bonnefoy A et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.

Casaña P et al.

Haematologica, 2006

Von Willebrand factor and von Willebrand disease.

Budde U et al.

Reviews in Clinical and Experimental Hematology, 2001

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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."