KEGG   VARIANT: 80270v1
Entry
80270v1                      Variant                               

Name
HSD3B7 deficiency
Gene
HSD3B7  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [KO:K12408]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607764
Network
nt06022  Bile acid biosynthesis
  Element
N00810  HSD3B7 deficiency in bile acid biosynthesis
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