Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.S381Splc
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ARSB

NM_000046.5:p.S381Splc

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

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.

Malekpour N et al.

Iranian Journal of Basic Medical Sciences, 2018

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Harmatz P et al.

Frontiers in Bioscience (landmark Edition), 2017

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM et al.

Orphanet Journal of Rare Diseases, 2013

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L et al.

Human Mutation, 2007

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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."