Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.M1insFs
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SLC25A13

NM_014251.3:p.M1insFs

Associated Papers

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.

Lin WX et al.

Scientific Reports, 2016

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Cheng RL et al.

Molecular Genetics and Metabolism, 0

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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."