KEGG   VARIANT: 1593v1
Entry
1593v1                      Variant                                

Name
CYP27A1 deficiency
Gene
CYP27A1  cytochrome P450 family 27 subfamily A member 1 [KO:K00488]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606530
Network
nt06022  Bile acid biosynthesis
  Element
N00808  CYP27A1 deficiency in bile acid biosynthesis
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