Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.M33insFs
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SLC25A15

NM_014252.4:p.M33insFs

Associated Papers

[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

Tsujino S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2001

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

Miyamoto T et al.

Journal of Human Genetics, 2001

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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."