Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.H1268N
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VWF

NM_000552.5:p.H1268N

Associated Papers

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Kalot MA et al.

Blood Advances, 2022

35192687 (PubMed )
Supplement: advancesADV2021005431C-suppl1.pdf

Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

Interlandi G et al.

The Journal of Biological Chemistry, 2017

Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.

Kaur H et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

Federici AB et al.

Blood, 2009

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

The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease.

Stakiw J et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

The value of genetic testing for type 2B Von Willebrand disease.

Roland K et al.

Clinical and Laboratory Haematology, 2006

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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."