Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1360A
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VWF

NM_000552.5:p.V1360A

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

Von Willebrand factor is a multifaceted player in hemostasis requiring a diverse array of analytical and diagnostic approaches.

Depasse F et al.

Expert Review of Hematology, 2025

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

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

Seidizadeh O et al.

Blood Advances, 2024

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

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

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

Vangenechten I et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2022

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

Seidizadeh O et al.

Blood Advances, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s004.xlsx › Blad2

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Genetic variants of VWF gene in type 2 von Willebrand disease.

Freitas SDS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Standardization and comparison of nonautomated assays to measure the collagen binding activity of von Willebrand factor.

Oliveira LMM et al.

International Journal of Laboratory Hematology, 2018

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N et al.

Haematologica, 2017

28971901 (PubMed )
Supplement: 2017.168765.BORRAS_SUPPL.pdf

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 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

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

Kasatkar P et al.

Plos One, 2014

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

Starke RD et al.

Blood, 2013

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Bowman M et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

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

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Chuzhanova N et al.

Human Mutation, 2009

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.

Corrales I et al.

Thrombosis and Haemostasis, 2009

Gene conversions are a common cause of von Willebrand disease.

Gupta PK et al.

British Journal of Haematology, 2005

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gupta PK et al.

Blood Cells, Molecules & Diseases, 0

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