Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1378F
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VWF

NM_000552.5:p.S1378F

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

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

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.

Seidizadeh O et al.

Blood Advances, 2024

Reply to "Comment on: A comparative study in type 2 von Willebrand disease patients using four different platelet-dependent von Willebrand factor assays".

Colpani P et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Seidizadeh O et al.

Blood Advances, 2022

Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Lapić I et al.

Croatian Medical Journal, 2022

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Lago J et al.

Genes, 2021

Evaluation of a fully automated von Willebrand factor assay panel for the diagnosis of von Willebrand disease.

Stufano F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020

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

Yadegari H et al.

Hamostaseologie, 2020

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

New development in von Willebrand disease.

Castaman G

Current Opinion in Hematology, 2013

Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Starke RD et al.

Blood, 2013

Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.

Johansson AM et al.

Annals of Human Genetics, 2011

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.

Sutherland MS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Gene symbol: VWF. Disease: Von Willebrand disease?

Mueller OT

Human Genetics, 2008

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

Budde U et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A et al.

Blood, 2007

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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."