Varaico: Literature-Extracted Genetic Variants

Gene:NAGA
Variant:p.E193*
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NAGA

NM_000262.3:p.E193*

Associated Papers

A New Case of Schindler Disease.

Castro RG et al.

European Journal of Case Reports in Internal Medicine, 2019

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

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

Sakuraba H et al.

Journal of Human Genetics, 2004

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.

Kodama K et al.

The British Journal of Dermatology, 2001

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

Bakker HD et al.

European Journal of Human Genetics : Ejhg, 2001

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.

Michalski JC et al.

Biochimica Et Biophysica Acta, 1999

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Keulemans JL et al.

Journal of Medical Genetics, 1996

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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."