Varaico: Literature-Extracted Genetic Variants

Gene:RPTOR
Variant:p.A467T
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RPTOR

NM_020761.3:p.A467T

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

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

Baruffini E et al.

Mitochondrion, 2011

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.

Stewart JD et al.

Hepatology (baltimore, Md.), 2010

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

Mitochondrial DNA mutators.

Foury F et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

Copeland WC et al.

Acta Biochimica Polonica, 2003

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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."