Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.G79E
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NBAS

NM_015909.4:p.G79E

Associated Papers

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.

Martínez AI et al.

Molecular Genetics and Metabolism, 2010

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Kurokawa K et al.

Journal of Human Genetics, 2007

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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."