Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.I1343V
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VWF

NM_000552.5:p.I1343V

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

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

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

Seidizadeh O et al.

Blood Advances, 2022

35452508 (PubMed )
Supplement: advancesADV2022007216-suppl1.pdf

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

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

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

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.

Ahmed S et al.

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

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

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

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela JK et al.

Molecular Genetics and Metabolism, 2006

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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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."