Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.S320R
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ARSB

NM_000046.5:p.S320R

Associated Papers

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Tomanin R et al.

Human Mutation, 2018

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Uttarilli A et al.

Gene, 2017

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Uttarilli A et al.

The Indian Journal of Medical Research, 2015

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.

Litjens T et al.

Human Mutation, 2001

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

Villani GR et al.

Biochimica Et Biophysica Acta, 1999

Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.

Brooks DA et al.

American Journal of Human Genetics, 1991

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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."