Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.A429_A430del2
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SLC25A13

NM_014251.3:p.A429_A430del2

Associated Papers

Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.

Narasimhan M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
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