Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Y1349C
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VWF

NM_000552.5:p.Y1349C

Associated Papers

Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Doruelo AL et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Comparison of von Willebrand factor (VWF) activity levels determined by HemosIL AcuStar assay and HemosIL LIA assay with ristocetin cofactor assay by aggregometry.

Sagheer S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

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

Collagen binding provides a sensitive screen for variant von Willebrand disease.

Flood VH et al.

Clinical Chemistry, 2013

Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.

Flood VH et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

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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."