Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G1629R
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VWF

NM_000552.5:p.G1629R

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

Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

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

Seidizadeh O et al.

Blood Advances, 2024

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

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch CJ et al.

Plos One, 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

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

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006

von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Von Willebrand's disease: clinical management.

Federici AB et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

Zanardelli S et al.

The Journal of Biological Chemistry, 2006

Molecular basis of von Willebrand disease and its clinical implications.

Unknown Author

Haematologica, 2004

A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

Hilbert L et al.

Haematologica, 2004

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.

Casaña P et al.

American Journal of Hematology, 1999

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