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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PAX8 Q06710 p.Ser48Phe rs121917719 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 [MIM:167415#0008]
2k27
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )