Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1604F
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VWF

NM_000552.5:p.V1604F

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

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

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

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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."