Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R388T
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ARSB

NM_000046.5:p.R388T

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

30118150 (PubMed )
Supplement: HUMU-39-1788-s001.pdf

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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