Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M1304R
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VWF

NM_000552.5:p.M1304R

Associated Papers

Laboratory variability in the diagnosis of type 2 VWD variants.

DiGiandomenico S et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

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

Doruelo AL et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Chen J et al.

Blood, 2015

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."