Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R417Splc
Back to variants list

POLG

NM_002693.3:p.R417Splc

Associated Papers

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.

Appenzeller S et al.

Developmental Medicine and Child Neurology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."