Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.K606N
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GUSB

NM_000181.4:p.K606N

Associated Papers

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

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."