Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.A206fs
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SLC25A13

NM_014251.3:p.A206fs

Associated Papers

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Tabata A et al.

Journal of Human Genetics, 2008

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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."