Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.E184E
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ADAMTS13

NM_139027.6:p.E184E

Associated Papers

Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Jankowska KI et al.

Blood Advances, 2022

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M et al.

Pediatric Research, 2008

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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."