Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.G763R
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POLG

NM_002693.3:p.G763R

Associated Papers

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

The wide POLG-related spectrum: An integrated view.

Béreau M et al.

Journal of the Neurological Sciences, 2016

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.

Bostan A et al.

Autonomic Neuroscience : Basic & Clinical, 2012

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

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

Inherited mitochondrial neuropathies.

Finsterer J

Journal of the Neurological Sciences, 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

Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.

Chan SS et al.

Methods in Molecular Biology (clifton, N.j.), 2009

Inherited mitochondrial diseases of DNA replication.

Copeland WC

Annual Review of Medicine, 2008

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Santoro L et al.

Journal of Neurology, 2006

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