Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.T212I
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ARSB

NM_000046.5:p.T212I

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

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo M et al.

Italian Journal of Pediatrics, 2018

[Genetic aspects of mucopolysaccharidoses].

Lacombe D et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014

Mucopolysaccharidosis VI.

Valayannopoulos V et al.

Orphanet Journal of Rare Diseases, 2010

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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."