Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A22
Variant:p.G110R
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SLC25A22

NM_001191061.2:p.G110R

Associated Papers

Mutant zebrafish lacking slc25a22a show spontaneous seizures and respond to the anti-seizure medication valproic acid.

Lee SH et al.

Disease Models & Mechanisms, 2025

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Lemattre C et al.

European Journal of Human Genetics : Ejhg, 2019

Mitochondrial transporters of the SLC25 family and associated diseases: a review.

Palmieri F

Journal of Inherited Metabolic Disease, 2014

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri A et al.

Annals of Neurology, 2013

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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."