Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.L546_Q554insFs
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SLC25A12

NM_003705.5:p.L546_Q554insFs

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

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Kido J et al.

Journal of Inherited Metabolic Disease, 2024

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

Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.

Zhang ZH et al.

Gene, 2012

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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."