Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.M299L
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POLG

NM_002693.3:p.M299L

Associated Papers

Phenotypic expression of POLG1 variants is highly heterogeneous.

Finsterer J

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Masingue M et al.

Mitochondrion, 2019

Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Yasuda K et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019

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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."