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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FKRP Q9H9S5 p.Pro316Thr rs28937901 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), [MIM:606596#0007]
Detail
0.13 (T)
1 (D)
N