Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.V855A
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POLG

NM_002693.3:p.V855A

Associated Papers

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

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

POLG mutations associated with remitting/relapsing neurological events.

Degos B et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014

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

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."