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Mutations on the Protein: P61457 From Positions: 78 To 83

4
2
0
2







Swiss-Prot Disease: VAR_005528
p.CYS82ARG
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)


Swiss-Prot Polymorphism: VAR_005527
p.THR79ILE
N/A
N/A
N/A


OMIM Disease: 126090.0002
p.CYS82ARG
N/A
N/A
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D


OMIM Disease: 126090.0003
p.THR78ILE
N/A
N/A
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D






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