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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PANK2 Q9BZ23 p.Thr234Ala rs137852965 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.37 (T)
0.931 (D)
D ( Predicted by rules : 1 )