Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R628Q
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POLG

NM_002693.3:p.R628Q

Associated Papers

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B et al.

Plos One, 2015

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Genetic insights into OXPHOS defect and its role in cancer.

Chandra D et al.

Biochimica Et Biophysica Acta, 2011

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD et al.

Cellular and Molecular Life Sciences : Cmls, 2011

Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Singh KK et al.

Journal of Human Genetics, 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."