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Mutations on the Protein: Q9UKY4 From Positions: 713 To 750

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4
0
3



Swiss-Prot Disease: VAR_065047
p.GLY726GLU
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)


Swiss-Prot Disease: VAR_065046
p.PHE717SER
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)


Swiss-Prot Disease: VAR_065048
p.TRP748ARG
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)


Swiss-Prot Disease: VAR_065049
p.TRP748SER
N/A
N/A
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)


OMIM Disease: 607439.0013,607439.0015
p.GLY726GLU
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2


OMIM Disease: 607439.0006
p.TRP748ARG
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2


OMIM Disease: 607439.0011
p.TRP748SER
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2






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