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Mutations on the Protein: Q8NCR0 From Positions: 275 To 300

2
1
0
1



Swiss-Prot Disease: VAR_069641
p.ARG292PRO
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)


OMIM Disease: 610194.0002
p.ARG292PRO
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11






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