Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.E252K
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SLC25A12

NM_003705.5:p.E252K

Associated Papers

Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.

Tavoulari S et al.

Molecular Metabolism, 2024

39419476 (PubMed )
Supplement: mmc1.docx

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.

Tavoulari S et al.

Trends in Endocrinology and Metabolism: Tem, 2022

Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.

Zhang ZH et al.

Gene, 2012

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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."