Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.E1567delFs
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VWF

NM_000552.5:p.E1567delFs

Associated Papers

Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.

Castaman G et al.

Acta Haematologica, 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."