Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.D1302G
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VWF

NM_000552.5:p.D1302G

Associated Papers

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIbα on the rate of cleavage to VWF by ADAMTS13.

Ma Z et al.

Thrombosis Research, 2015

Functional display of platelet-binding VWF fragments on filamentous bacteriophage.

Yee A et al.

Plos One, 2013

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 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."