Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.M142I
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ARSB

NM_000046.5:p.M142I

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

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.

Litjens T et al.

Human Mutation, 2001

Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.

Brooks DA et al.

American Journal of Human Genetics, 1991

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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."