Varaico: Literature-Extracted Genetic Variants

Gene:NAGA
Variant:p.L112L
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NAGA

NM_000262.3:p.L112L

Associated Papers

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

Erdos M et al.

Molecular Genetics and Metabolism, 2008

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M et al.

Human Mutation, 2003

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."