Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.A2insFs
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SLC25A12

NM_003705.5:p.A2insFs

Associated Papers

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Kido J et al.

Journal of Inherited Metabolic Disease, 2022

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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."