Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1161Splc
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POLG

NM_002693.3:p.R1161Splc

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

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G et al.

Brain : a Journal of Neurology, 2005

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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."