Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.*1240Q
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POLG

NM_002693.3:p.*1240Q

Associated Papers

Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.

Valiente-Pallejà A et al.

Ebiomedicine, 2022

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Lujan SA et al.

Genome Biology, 2020

32943091 (PubMed )
Supplement: 13059_2020_2138_MOESM2_ESM.pdf

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Epilepsy in adults with mitochondrial disease: A cohort study.

Whittaker RG et al.

Annals of Neurology, 2015

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Horga A et al.

Brain : a Journal of Neurology, 2014

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.

Campbell G et al.

Human Molecular Genetics, 2014

The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons.

Reeve A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.

Yu-Wai-Man C et al.

Plos One, 2013

Mitochondria and peripheral neuropathies.

Vital A et al.

Journal of Neuropathology and Experimental Neurology, 2012

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Lax NZ et al.

Archives of Neurology, 2012

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Lax NZ et al.

Brain : a Journal of Neurology, 2012

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