Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.G555insFs
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SLC25A13

NM_014251.3:p.G555insFs

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

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

Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.

Wang K et al.

Frontiers in Pediatrics, 2023

[A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia].

Tong F et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].

Wen PQ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011

[Neonatal intrahepatic cholestasis caused by citrin deficiency: case report].

Liu ZF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007

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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."