Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1190R
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VWF

NM_000552.5:p.C1190R

Associated Papers

Allele-selective von Willebrand factor silencing.

Eikenboom J et al.

Research and Practice in Thrombosis and Haemostasis, 2026

Allele-selective Disruption of Pathogenic VWF Variants in Type 2 Von Willebrand Disease using CRISPR/Cas9.

Bär I et al.

Blood Advances, 2025

Prophylaxis in von Willebrand disease with von Willebrand factor concentrate and nonfactor therapies.

van Kwawegen CB et al.

Research and Practice in Thrombosis and Haemostasis, 2024

Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Atiq F et al.

Blood Advances, 2022

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Atiq F et al.

Hemasphere, 2022

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.

Swinkels M et al.

Research and Practice in Thrombosis and Haemostasis, 2021

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s004.xlsx › Blad2

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

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

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G et al.

Expert Review of Hematology, 2011

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

Schneppenheim R et al.

Blood, 2010

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.

Gadisseur A et al.

Acta Haematologica, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

James PD et al.

Blood, 2007

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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."