Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K755E
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POLG

NM_002693.3:p.K755E

Associated Papers

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

Blázquez-Bermejo C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L et al.

Nucleic Acids Research, 2011

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

Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.

Bortot B et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 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."