Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.H1322P
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VWF

NM_000552.5:p.H1322P

Associated Papers

Assembly of von Willebrand factor tubules with in vivo helical parameters requires A1 domain insertion.

Javitt G et al.

Blood, 2022

Type 2M von Willebrand disease - more often misidentified than correctly identified.

Favaloro EJ et al.

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

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

Evaluating errors in the laboratory identification of von Willebrand disease in the real world.

Favaloro EJ et al.

Thrombosis Research, 2014

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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."