Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.A347S
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CPS1

NM_001875.5:p.A347S

Associated Papers

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

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

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.

Seligson ND et al.

Jama Network Open, 2019

31577358 (PubMed )
Supplement: jamanetwopen-2-e1912416-s001.pdf

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

Martínez AI et al.

Molecular Genetics and Metabolism, 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."