Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.I1079L
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POLG

NM_002693.3:p.I1079L

Associated Papers

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A et al.

Bba Clinical, 2017

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B et al.

Archives of Neurology, 2010

The mitochondrial DNA polymerase in health and disease.

Copeland WC

Sub-cellular Biochemistry, 2010

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ et al.

Human Mutation, 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."