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Mutations on the Protein: NP_001230695 From Positions: 486 To 524

2
0
0
2




OMIM Disease: 606822.0016
p.CYS490TYR
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 3


OMIM Disease: 606822.0005
p.PRO493ARG
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3






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