Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1245V
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VWF

NM_000552.5:p.V1245V

Associated Papers

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Alzahrani FM et al.

Journal of Medicine and Life, 2023

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

Prevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Gene conversions are a common cause of von Willebrand disease.

Gupta PK et al.

British Journal of Haematology, 2005

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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."