Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1230F
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POLG

NM_002693.3:p.S1230F

Associated Papers

POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Hsieh PC et al.

Brain and Behavior, 2019

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E et al.

Mitochondrion, 2015

25462018 (PubMed )
Supplement: mmc2.doc

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.

Gui YX et al.

Plos One, 2012

Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

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

Stumpf JD et al.

Cellular and Molecular Life Sciences : Cmls, 2011

Polymerase gamma 1 mutations: clinical correlations.

Milone M et al.

The Neurologist, 2010

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Chan SS et al.

Biochimica Et Biophysica Acta, 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."