Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L605R
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POLG

NM_002693.3:p.L605R

Associated Papers

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

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

Chan SS et al.

Biochimica Et Biophysica Acta, 2009

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD et al.

Journal of Medical Genetics, 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."