Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.V376E
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ARSB

NM_000046.5:p.V376E

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

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN et al.

Jimd Reports, 2015

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 2014

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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."