Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S292Splc
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VWF

NM_000552.5:p.S292Splc

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

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

Baronciani L et al.

Blood Advances, 2021

Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.

Nummi V et al.

International Journal of Laboratory Hematology, 2018

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations.

Jokela V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

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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."