Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.A205_A206Splc
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SLC25A13

NM_014251.3:p.A205_A206Splc

Associated Papers

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

Kim IS et al.

Journal of Biochemistry and Molecular Biology, 2006

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ et al.

Human Mutation, 2003

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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."