Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.C405Splc
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ARSB

NM_000046.5:p.C405Splc

Associated Papers

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Voskoboeva E et al.

Frontiers in Molecular Biosciences, 2021

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF et al.

Diagnostics (basel, Switzerland), 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

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Harmatz P et al.

Frontiers in Bioscience (landmark Edition), 2017

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."