Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C849Splc
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VWF

NM_000552.5:p.C849Splc

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

Nonsense-mediated mRNA decay among coagulation factor genes.

Shahbazi S

Iranian Journal of Basic Medical Sciences, 2016

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

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.

Platè M et al.

Haematologica, 2010

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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."