Varaico: Literature-Extracted Genetic Variants

Gene:NAGS
Variant:p.A279P
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NAGS

NM_153006.3:p.A279P

Associated Papers

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

Ah Mew N et al.

The Application of Clinical Genetics, 2011

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.

Caldovic L et al.

Human Mutation, 2007

Mammalian N-acetylglutamate synthase.

Morizono H et al.

Molecular Genetics and Metabolism, 2004

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J et al.

Human Mutation, 2003

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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."