Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R627P
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POLG

NM_002693.3:p.R627P

Associated Papers

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.

Specchio N et al.

Brain Sciences, 2020

33113942 (PubMed )
Supplement: brainsci-10-00768-s001.pdf

Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

Brinjikji W et al.

Jimd Reports, 2011

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."