Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.L570insFs
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SLC25A13

NM_014251.3:p.L570insFs

Associated Papers

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.

Kido J et al.

Human Mutation, 2025

Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations.

Wang H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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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."