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Mutations on the Protein: NP_000932 From Positions: 476 To 510

2
0
1
1

















dbSNP Polymorphism: rs1057868
p.ALA503VAL
N/A
N/A
N/A


OMIM Disease: 124015.0001
p.VAL492GLU
N/A
N/A
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS






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