Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.W1745C
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VWF

NM_000552.5:p.W1745C

Associated Papers

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

Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect.

Fels S et al.

Hamostaseologie, 2023

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

Current issues in diagnosis and treatment of von Willebrand disease.

Keesler DA et al.

Research and Practice in Thrombosis and Haemostasis, 2018

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Berber E et al.

Blood Transfusion = Trasfusione Del Sangue, 2017

M1761K mutation in the von Willebrand factor A3 domain associated with impaired collagen binding and without platelet dysfunction.

Ong DM et al.

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

Current and emerging approaches for assessing von Willebrand disease in 2016.

Federici AB

International Journal of Laboratory Hematology, 2016

The p.R1819_C1948delinsS mutation makes von Willebrand factor ADAMTS13-resistant and reduces its collagen-binding capacity.

Daidone V et al.

British Journal of Haematology, 2015

Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation.

Shida Y et al.

Blood, 2014

Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis.

Castaman G et al.

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

von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.

Lillicrap D

Blood, 2013

Translational medicine advances in von Willebrand disease.

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2013

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

James PD et al.

British Journal of Haematology, 2013

Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.

Legendre P et al.

Blood, 2013

The molecular genetics of von Willebrand disease.

Berber E

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

Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Implications for collagen I chain registry from the structure of the collagen von Willebrand factor A3 domain complex.

Brondijk TH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

A family with type 2M VWD with normal VWF:RCo but reduced VWF:CB and a M1761K mutation in the A3 domain.

Keeling D et al.

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

von Willebrand's disease diagnosis and laboratory issues.

Castaman G et al.

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

Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Flood VH et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor.

Riddell AF et al.

Blood, 2009

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

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2009

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