Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.P1411L
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CPS1

NM_001875.5:p.P1411L

Associated Papers

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

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.

de Cima S et al.

Scientific Reports, 2015

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.

Díez-Fernández C et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Häberle J et al.

Human Mutation, 2011

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.

Martínez AI et al.

Molecular Genetics and Metabolism, 2010

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

Pekkala S et al.

Human Mutation, 2010

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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."