Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.T1394A
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CPS1

NM_001875.5:p.T1394A

Associated Papers

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

Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase.

Pekkala S et al.

The Biochemical Journal, 2009

19754428 (PubMed )
Supplement: supplement_1.pdf
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