Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.M37R
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SLC25A15

NM_014252.4:p.M37R

Associated Papers

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

Doimo M et al.

Jimd Reports, 2016

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

Marobbio CM et al.

Molecular Genetics and Metabolism, 2015

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D et al.

Orphanet Journal of Rare Diseases, 2015

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.

Wang JF et al.

Plos One, 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."