Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.L260R
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POLG2

NM_007215.4:p.L260R

Associated Papers

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

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Chan SS et al.

Biochimica Et Biophysica Acta, 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

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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."