Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1314D
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VWF

NM_000552.5:p.V1314D

Associated Papers

The epitope of the antibody used in the REAADS VWF activity assay is quaternary.

Tischer A et al.

Thrombosis Journal, 2025

Conformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.

Machha VR et al.

Nar Molecular Medicine, 2024

Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Tischer A et al.

Journal of Molecular Biology, 2020

The Chaperonin GroEL: A Versatile Tool for Applied Biotechnology Platforms.

O'Neil PT et al.

Frontiers in Molecular Biosciences, 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

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

Zimmermann MT et al.

Biophysical Journal, 2015

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

Tischer A et al.

Biophysical Journal, 2014

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Inherited bleeding disorders: disorders of platelet adhesion and aggregation.

Ramasamy I

Critical Reviews in Oncology/hematology, 2004

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.

Casaña P et al.

Haematologica, 2001

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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."