Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A2
Variant:p.T32R
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SLC25A2

NM_031947.4:p.T32R

Associated Papers

Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.

Tezcan K et al.

Jimd Reports, 2012

The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA et al.

Pediatric Research, 2009

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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."