Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.R588P
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SLC25A13

NM_014251.3:p.R588P

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

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

Tavoulari S et al.

Trends in Endocrinology and Metabolism: Tem, 2022

35725541 (PubMed )
Supplement: EMS164660-supplement-Supplementary_Material.docx
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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."