Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.T444I
Back to variants list

SLC25A12

NM_003705.5:p.T444I

Associated Papers

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Bölsterli BK et al.

Nutrients, 2022

AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.

Pardo B et al.

International Journal of Molecular Sciences, 2022

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.

Pfeiffer B et al.

Neuropediatrics, 2020

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."