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disease: Aminoacylase 1 deficiency

id215
nameAminoacylase 1 deficiency
variant-disease NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) AND Aminoacylase 1 deficiency
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp) AND Aminoacylase 1 deficiency
NM_000666.3(ACY1):c.360-1G>A AND Aminoacylase 1 deficiency
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) AND Aminoacylase 1 deficiency
NM_000666.3(ACY1):c.1001_1001+5del AND Aminoacylase 1 deficiency
... 3 more