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Mutations on the Protein: Q9UKY4 From Positions: 638 To 675

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Swiss-Prot Disease: VAR_065045
p.TYR666CYS
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)


OMIM Disease: 607439.0001
p.ARG638TER
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2


OMIM Disease: 607439.0005
p.TRP647TER
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2


OMIM Disease: 607439.0004
p.TYR666CYS
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2||MUSCULAR DYSTROPHY-DYSTROGLYCANO






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