Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.K1387_L1388Splc
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CPS1

NM_001875.5:p.K1387_L1388Splc

Associated Papers

Expression and function of the urea cycle in widely-used hepatic cellular models.

Makris G 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 › CPS1_Patients

Modelling urea cycle disorders using iPSCs.

Duff C et al.

Npj Regenerative Medicine, 2022

CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis.

Nitzahn M et al.

The Yale Journal of Biology and Medicine, 2021

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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."