Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.E540Q
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GUSB

NM_000181.4:p.E540Q

Associated Papers

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

Tomatsu S et al.

Human Mutation, 2009

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Tomatsu S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

Active site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue.

Islam MR et al.

The Journal of Biological Chemistry, 1999

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