Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.Q226_H227Splc
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NAGLU

NM_000263.4:p.Q226_H227Splc

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

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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."