Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.E150K
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GUSB

NM_000181.4:p.E150K

Associated Papers

Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.

Khan FI et al.

Gene, 2016

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

Tomatsu S et al.

Human Mutation, 2009

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

Durand P et al.

Human Molecular Genetics, 2000

Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.

Ray J et al.

Genomics, 1998

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

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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."