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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VWF

Variant:p.E835*

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VWF

NM_000552.5:p.E835*

hg38:chr12:6036431 C>A

Associated Papers

Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.

Ornaghi AP et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

33550700 (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."