Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.W507*
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GUSB

NM_000181.4:p.W507*

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

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R et al.

American Journal of Human Genetics, 1996

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

Yamada S et al.

Human Molecular Genetics, 1995

[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].

Bruskina VIa et al.

Tsitologiia I Genetika, 0

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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."