Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.A1461V
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VWF

NM_000552.5:p.A1461V

Associated Papers

Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.

Akimoto T et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

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

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

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

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

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 genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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