Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.Y626H
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GUSB

NM_000181.4:p.Y626H

Associated Papers

Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.

Naz H et al.

Rejuvenation Research, 2013

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S et al.

Human Mutation, 2009

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

Storch S et al.

Human Genetics, 2003

Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.

Durand P et al.

Human Molecular Genetics, 2000

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R et al.

Human Genetics, 1998

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R et al.

American Journal of Human Genetics, 1995

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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."