Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1341Q
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VWF

NM_000552.5:p.R1341Q

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

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

Comparative Analysis of Pure VWF and VWF/FVIII Complex in Orthopedic Surgery for Type 2B von Willebrand Disease.

Chamouni P et al.

The American Journal of Case Reports, 2025

Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.

van Kwawegen CB et al.

Journal of Thrombosis and Haemostasis : Jth, 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

von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.

Mobayen G et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

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

Seidizadeh O et al.

Blood Advances, 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

Activation of von Willebrand factor via mechanical unfolding of its discontinuous autoinhibitory module.

Arce NA et al.

Nature Communications, 2021

Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Boender J et al.

Hemasphere, 2021

Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Szederjesi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.

Dupont A et al.

Haematologica, 2019

Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.

Vangenechten I et al.

Thrombosis and Haemostasis, 2019

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

A comparative analysis of different automated von Willebrand factor glycoprotein Ib-binding activity assays in well typed von Willebrand disease patients.

Vangenechten I et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Machha VR et al.

Journal of Molecular Biology, 2017

Lupus anticoagulants associated inhibitor against factor IX in a young patient with haemophilia B.

Barnbrock A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

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

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.

Stufano F et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Zimmermann MT et al.

Biophysical Journal, 2015

The spectrum of mutations in Southern Spanish patients with von Willebrand disease.

Álvarez-Laderas I et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

How I treat type 2 variant forms of von Willebrand disease.

Tosetto A et al.

Blood, 2015

Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.

Kaur H et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Tischer A et al.

Biophysical Journal, 2014

Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.

Ahmad F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

The molecular characterization of von Willebrand disease: good in parts.

James PD et al.

British Journal of Haematology, 2013

Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Casari C et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease.

Paro Mde O et al.

International Journal of Peptides, 2013

The molecular genetics of von Willebrand disease.

Berber E

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

von Willebrand's disease: a report from a meeting in the Åland islands.

Berntorp E et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.

James PD et al.

American Journal of Hematology, 2012

von Willebrand disease.

James PD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011

The pathophysiology of von Willebrand disease: therapeutic implications.

Schneppenheim R

Thrombosis Research, 2011

Severe bleeding diathesis associated with moderate thrombocytopenia - diagnostic workup of seven family members with type 2B von Willebrand's disease.

Zdziarska J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.

Corrales I et al.

Haematologica, 2010

Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions.

Golder M et al.

Blood, 2010

A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.

Ozeki M et al.

Thrombosis Research, 2010

Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2009

Altered megakaryocytopoiesis in von Willebrand type 2B disease.

Nurden AT et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

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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."