Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.N301K
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ARSB

NM_000046.5:p.N301K

Associated Papers

Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy's Syndrome by Molecular Dynamics Simulation.

Madhana Priya N et al.

Molecular Diversity, 2024

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Broeders M et al.

Molecular Therapy. Methods & Clinical Development, 2020

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

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.

Malekpour N et al.

Iranian Journal of Basic Medical Sciences, 2018

Mutations in ARSB in MPS VI patients in India.

Mathew J et al.

Molecular Genetics and Metabolism Reports, 2015

26937411 (PubMed )
Supplement: mmc1.pdf

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R et al.

Human Gene Therapy, 2015

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

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM et al.

Orphanet Journal of Rare Diseases, 2013

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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."