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Mutations on the Protein: Q8NCR0 From Positions: 250 To 275

4
2
0
2


Swiss-Prot Disease: VAR_069639
p.VAL252GLY
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)


Swiss-Prot Disease: VAR_069640
p.VAL268MET
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)


OMIM Disease: 610194.0004
p.VAL252GLY
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11


OMIM Disease: 610194.0005
p.VAL268MET
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11






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