Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1190Y
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VWF

NM_000552.5:p.C1190Y

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Allele-selective von Willebrand factor silencing.

Eikenboom J et al.

Research and Practice in Thrombosis and Haemostasis, 2026

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

The future of siRNA-mediated approaches to treat von Willebrand disease.

Linthorst NA et al.

Expert Review of Hematology, 2025

Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.

Van Laer C et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

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

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

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

Correcting dominant-negative von Willebrand disease.

Karampini E et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

de Jong A et al.

Thrombosis and Haemostasis, 2020

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

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 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

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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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."