KEGG   VARIANT: 2588v1
Entry
2588v1                      Variant                                

Name
GALNS deficiency
Gene
GALNS  galactosamine (N-acetyl)-6-sulfatase [KO:K01132]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612222
Network
nt06012  Glycosaminoglycan degradation
  Element
N00626  GALNS deficiency in keratan sulfate degradation
N10010  Replacement of deficient GALNS
Drug target
Elosulfasealfa: D10333<JP/US>
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