Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.D187A
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ADAMTS13

NM_139027.6:p.D187A

Associated Papers

Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.

de Vries PS et al.

Blood, 2015

The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.

De Cock E et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease.

Pozzi N et al.

Biophysical Chemistry, 2012

The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.

de Groot R et al.

Blood, 2010

A functional calcium-binding site in the metalloprotease domain of ADAMTS13.

Gardner MD et al.

Blood, 2009

[von Willebrand disease--including related renal diseases].

Sato M

Ryoikibetsu Shokogun Shirizu, 1997

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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."