Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A22
Variant:p.T56P
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SLC25A22

NM_001191061.2:p.T56P

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

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.

Kunji ERS et al.

Physiology (bethesda, Md.), 2020

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

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Reid ES et al.

Journal of Inherited Metabolic Disease, 2017

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

Nicotera AG et al.

Journal of Neurogenetics, 0

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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."