Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.E346delFs
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ARSB

NM_000046.5:p.E346delFs

Associated Papers

Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.

Jafaryazdi R et al.

Molecular Biology Reports, 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

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

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L et al.

Human Mutation, 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."