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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 POU1F1 P28069 p.Trp193Arg rs104893758 Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
1au7
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )