Varaico: Literature-Extracted Genetic Variants

Gene:NAGS
Variant:p.H304Y
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NAGS

NM_153006.3:p.H304Y

Associated Papers

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.

Kido J et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."