Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S809Splc
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POLG

NM_002693.3:p.S809Splc

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

Alpers syndrome with mutations in POLG: clinical and investigative features.

Hunter MF et al.

Pediatric Neurology, 2011

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Hakonen AH et al.

European Journal of Human Genetics : Ejhg, 2007

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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."