Varaico: Literature-Extracted Genetic Variants

Gene:NAGA
Variant:p.D217N
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NAGA

NM_000262.3:p.D217N

Associated Papers

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Mohamed FE et al.

Journal of Molecular Neuroscience : Mn, 2020

The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.

Clark NE et al.

Journal of Molecular Biology, 2009

A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.

Chabás A et al.

Journal of Inherited Metabolic Disease, 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."