Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.V1229G
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F8

NM_000132.4:p.V1229G

Associated Papers

Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies.

Dubois MD et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Manderstedt E et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2018

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Lavin M et al.

Blood, 2017

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Kasatkar P et al.

Plos One, 2014

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Bellissimo DB et al.

Blood, 2012

Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease.

Robertson JD et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

James PD et al.

Blood, 2007

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."