Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1665E
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VWF

NM_000552.5:p.V1665E

Associated Papers

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

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

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

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

Seidizadeh O et al.

Blood Advances, 2024

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

Seidizadeh O et al.

Blood Advances, 2022

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

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

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.

Castaman G et al.

Haematologica, 2010

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

An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.

Kunicki TJ et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

Jenkins PV et al.

Blood, 1998

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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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."