Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C849Y
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VWF

NM_000552.5:p.C849Y

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

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

Seidizadeh O et al.

Blood Advances, 2022

Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

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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."