Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.Y391*
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SLC25A13

NM_014251.3:p.Y391*

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

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_gnomAD

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.

Pinto A et al.

Nutrients, 2020

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