Varaico: Literature-Extracted Genetic Variants

Gene:NAGS
Variant:p.A428S
Back to variants list

NAGS

NM_153006.3:p.A428S

Associated Papers

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

37847851 (PubMed )
Supplement: JIMD-47-1175-s001.xlsx › Table_S5
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."