Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.L132P
Back to variants list

ARSB

NM_000046.5:p.L132P

Associated Papers

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

Chuang CK et al.

International Journal of Molecular Sciences, 2022

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.

Chuang CK 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

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

Lin HY et al.

Molecular Genetics and Metabolism Reports, 2016

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."