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Mutations on the Protein: P09417 From Positions: 12 To 24

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Swiss-Prot Disease: VAR_021767
p.GLY17ARG
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)


Swiss-Prot Disease: VAR_021768
p.GLY18ASP
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)


Swiss-Prot Disease: VAR_006960
p.GLY23ASP
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)


Swiss-Prot Disease: VAR_008122
p.GLY17VAL
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)


Swiss-Prot Disease: VAR_008121
p.LEU14PRO
N/A
N/A
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)


OMIM Disease: 612676.0002
p.GLY23ASP
N/A
N/A
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C






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