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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ACAT1 P24752 p.Gly379Val rs120074143 3-ketothiolase deficiency (3KTD) [MIM:203750]
2ib7
D
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )