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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GAMT Q14353 p.Trp20Ser rs80338734 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 )