Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.E346fs
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ARSB

NM_000046.5:p.E346fs

Associated Papers

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Kilavuz S et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2022

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

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

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

Kılıç M et al.

American Journal of Medical Genetics. Part A, 2017

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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."