Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.L169_L170insFs
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ARSB

NM_000046.5:p.L169_L170insFs

Associated Papers

Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats.

Toyama S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer.

Cotugno G et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2011

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

Litjens T et al.

Human Mutation, 2001

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.

Kunieda T et al.

Genomics, 1995

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."