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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FKRP Q9H9S5 p.Tyr307Asn rs104894692 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]
Detail
0.01 (D)
1 (D)
N