Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.D1614A
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VWF

NM_000552.5:p.D1614A

Associated Papers

Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13).

Xiang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Essential role of the disintegrin-like domain in ADAMTS13 function.

de Groot R et al.

Blood, 2009

ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor.

Pruss CM et al.

British Journal of Haematology, 2008

ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

Zanardelli S et al.

The Journal of Biological Chemistry, 2006

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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."