Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.W353R
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ARSB

NM_000046.5:p.W353R

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

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Harmatz P et al.

Frontiers in Bioscience (landmark Edition), 2017

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A et al.

Jimd Reports, 2014

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.

Saito S et al.

Molecular Genetics and Metabolism, 2008

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L et al.

Human Mutation, 2007

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.

Karageorgos L et al.

Molecular Genetics and Metabolism, 2007

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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."