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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 QDPR P09417 p.Trp36Arg rs104893865 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.64 (T)
0.956 (D)
D ( Predicted by rules : 1 )