Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.A205_A206Splc
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SLC25A13

NM_014251.3:p.A205_A206Splc

Associated Papers

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.

Lin J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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_Patients

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].

Chen YL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].

Lin Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."