Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.C155Y
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ARSB

NM_000046.5:p.C155Y

Associated Papers

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

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

Ittiwut C et al.

Genetic Testing and Molecular Biomarkers, 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."