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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VWF

Variant:p.S915delFs

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VWF

NM_000552.5:p.S915delFs

hg38:chr12:6031517 TG>T

Associated Papers

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.

Xie F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

17880457 (PubMed )

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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."