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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ACAT1 P24752 p.Asn93Ser rs120074145 3-ketothiolase deficiency (3KTD) [MIM:203750]
2ib7
D
Detail
0.07 (T)
0.816 (D)
D ( Predicted by rules : 1 )