Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.M284K
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CAT

NM_001752.4:p.M284K

Associated Papers

Clinical and molecular features of POLG-related mitochondrial disease.

Stumpf JD et al.

Cold Spring Harbor Perspectives in Biology, 2013

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Kasiviswanathan R et al.

The Journal of Biological Chemistry, 2009

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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."