Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.P829L
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POLG

NM_002693.3:p.P829L

Associated Papers

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.

Gilea AI et al.

Iubmb Life, 2023

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Pitayu L et al.

Human Molecular Genetics, 2016

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T et al.

Frontiers in Genetics, 2015

25852747 (PubMed )
Supplement: Table1.DOCX

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E et al.

Mitochondrion, 2011

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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."