KEGG   VARIANT: 5092v1Help
Entry
5092v1                      Variant                                

Name
PCBD1 deficiency
Gene
PCBD1  pterin-4 alpha-carbinolamine dehydratase 1 [KO:K01724]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 126090
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00707  PCBD1 deficiency in tetrahydrobiopterin biosynthesis
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