Varaico: Literature-Extracted Genetic Variants

Gene:NAGA
Variant:p.E367K
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NAGA

NM_000262.3:p.E367K

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

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Bakker HD et al.

European Journal of Human Genetics : Ejhg, 2001

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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."