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KEGG   VARIANT: 411v1
Entry
411v1                      Variant                                 
Name
ARSB deficiency
Type
Loss of function
Gene
ARSB  arylsulfatase B [KO:K01135]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611542
Network
nt06012  Glycosaminoglycan degradation
Disease
H00131  Mucopolysaccharidosis type VI
Drug target
Galsulfase: D06565<JP/US>
Reference
PMID:30118150
  Authors
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ
  Title
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
  Journal
Hum Mutat 39:1788-1802 (2018)
DOI:10.1002/humu.23613
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