Varaico: Literature-Extracted Genetic Variants

Gene:NAGS
Variant:p.E360D
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NAGS

NM_153006.3:p.E360D

Associated Papers

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.

Erdal R et al.

Metabolites, 2025

Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.

Caldovic L et al.

Journal of Inherited Metabolic Disease, 2024

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Abou Haidar L et al.

Jimd Reports, 2023

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 › NAGS_Patients

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.

Sonaimuthu P et al.

Scientific Reports, 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."