Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M1528V
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VWF

NM_000552.5:p.M1528V

Associated Papers

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Von Willebrand factor processing.

Brehm MA

Hamostaseologie, 2017

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch CJ et al.

Plos One, 2017

Control of VWF A2 domain stability and ADAMTS13 access to the scissile bond of full-length VWF.

Lynch CJ et al.

Blood, 2014

Molecular mechanisms of disease-causing missense mutations.

Stefl S et al.

Journal of Molecular Biology, 2013

Mechanisms by which von Willebrand disease mutations destabilize the A2 domain.

Xu AJ et al.

The Journal of Biological Chemistry, 2013

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

Hassenpflug WA et al.

Blood, 2006

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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."