Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W918R
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POLG

NM_002693.3:p.W918R

Associated Papers

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.

Müller-Nedebock AC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Lee Y et al.

Genes, 2021

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Vital A et al.

Journal of the Peripheral Nervous System : Jpns, 2014

POLG1-related levodopa-responsive parkinsonism.

Miguel R et al.

Clinical Neurology and Neurosurgery, 2014

Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms.

Bonanni L et al.

European Journal of Neurology, 2014

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

Ferreira M et al.

Neuromuscular Disorders : Nmd, 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

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

Chan SS et al.

Biochimica Et Biophysica Acta, 2009

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F et al.

Neuromuscular Disorders : Nmd, 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."