GENETIC ENCYCLOPEDIA
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disease: Aminoacylase 1 deficiency
id
215
name
Aminoacylase 1 deficiency
variant-disease
NM_001198896.1(ACY1):c.841C>T (p.Arg281Cys) AND Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.589C>T (p.Arg197Trp) AND Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.360-1G>A AND Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.699A>C (p.Glu233Asp) AND Aminoacylase 1 deficiency
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369Hisfs) AND Aminoacylase 1 deficiency
... 3 more