Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.G324G
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ARSB

NM_000046.5:p.G324G

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

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-s003.xlsx › gnomad_ENSG00000113273_2017_11_

Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.

Lin WD et al.

The Tohoku Journal of Experimental Medicine, 2015

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.

Costa-Motta FM et al.

Molecular Genetics and Metabolism, 2011

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Lin WD et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."