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Mutations on the Protein: NP_001230695 From Positions: 524 To 561

2
0
0
2




OMIM Disease: 606822.0013
p.ASP556ASN
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3


OMIM Disease: 606822.0003
p.SER550ASN
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3






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