Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.S403delFs
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ARSB

NM_000046.5:p.S403delFs

Associated Papers

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S et al.

Molecular and Cellular Biochemistry, 2019

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

30118150 (PubMed )
Supplement: HUMU-39-1788-s001.pdf

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

Mutations in ARSB in MPS VI patients in India.

Mathew J et al.

Molecular Genetics and Metabolism Reports, 2015

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 2014

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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."