Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.F217delFs
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SLC25A13

NM_014251.3:p.F217delFs

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

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.

Owusu-Ansah M et al.

International Journal of Molecular Sciences, 2023

37047726 (PubMed )
Supplement: ijms-24-06754-s001.zip › ijms-2241907-supplementary › Supplementary_Tables_Figures › Supplementary_Table_S10.xlsx › Citrin_Patients

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

30285816 (PubMed )
Supplement: 13023_2018_908_MOESM1_ESM.xlsx › Sheet1

Citrin deficiency: A treatable cause of acute psychosis in adults.

Bijarnia-Mahay S et al.

Neurology India, 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."