Varaico: Literature-Extracted Genetic Variants

Gene:TIPARP
Variant:p.V263G
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TIPARP

NM_015508.5:p.V263G

Associated Papers

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

Seidle HF et al.

The Journal of Biological Chemistry, 2005

Aprataxin, a novel protein that protects against genotoxic stress.

Gueven N et al.

Human Molecular Genetics, 2004

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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."