Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.G303E
Back to variants list

ARSB

NM_000046.5:p.G303E

Associated Papers

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices.

Huang Y et al.

Frontiers in Genetics, 2024

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Chuang CK et al.

International Journal of Molecular Sciences, 2022

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

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.

Lin HY et al.

Molecular Genetics and Metabolism Reports, 2016

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

[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

Zheng J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Lin WD et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."