Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K480E
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POLG

NM_002693.3:p.K480E

Associated Papers

Parkinson's disease and mitochondrial gene variations: a review.

Andalib S et al.

Journal of the Neurological Sciences, 2014

Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Singh KK et al.

Journal of Human Genetics, 2009

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J et al.

Epilepsia, 2008

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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."