Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1130S
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VWF

NM_000552.5:p.C1130S

Associated Papers

A novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.

Calcoen B et al.

Haematologica, 2026

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

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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."