Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A2
Variant:p.Q179R
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SLC25A2

NM_031947.4:p.Q179R

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

Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.

Monné M et al.

The Journal of Biological Chemistry, 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."