Varaico: Literature-Extracted Genetic Variants

Gene:PSMD12
Variant:p.N156I
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PSMD12

NM_002816.5:p.N156I

Associated Papers

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A et al.

Bba Clinical, 2017

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Szczepanowska K et al.

Human Molecular Genetics, 2010

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

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

Stuart GR et al.

Human Molecular Genetics, 2006

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

Chan SS et al.

The Journal of Biological Chemistry, 2005

Mitochondrial DNA mutators.

Foury F et al.

Cellular and Molecular Life Sciences : Cmls, 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."