VARIANT: 5092v1
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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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