Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P812fs
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VWF

NM_000552.5:p.P812fs

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

Prevalence and characterization of anti-VWF antibodies in a population of patients with type 3 VWD.

Perry CL et al.

Blood Advances, 2024

Analysis of von Willebrand Disease in the "Heart of Europe".

Vangenechten I et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2022

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

Christopherson PA et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

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

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.

Nummi V et al.

International Journal of Laboratory Hematology, 2018

Type 2N von Willebrand disease: Characterization and diagnostic difficulties.

Casonato A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

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

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Casonato A et al.

Plos One, 2016

Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.

Boylan B et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Crucial role for the VWF A1 domain in binding to type IV collagen.

Flood VH et al.

Blood, 2015

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