Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Y452*
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POLG

NM_002693.3:p.Y452*

Associated Papers

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Chan SS et al.

Mitochondrion, 2009

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Hudson G et al.

Neurology, 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."