Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.E379V
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CPS1

NM_001875.5:p.E379V

Associated Papers

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

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_Tumors

Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.

Fan L et al.

Journal of Clinical Laboratory Analysis, 2020

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