GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Adenylosuccinate lyase deficiency

id183
nameAdenylosuccinate lyase deficiency
variant-disease NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) AND Adenylosuccinate lyase deficiency
NM_000026.4(ADSL):c.216C>T (p.Ile72=) AND Adenylosuccinate lyase deficiency
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) AND Adenylosuccinate lyase deficiency
NM_000026.4(ADSL):c.581G>A (p.Arg194His) AND Adenylosuccinate lyase deficiency
NM_000026.4(ADSL):c.270T>C (p.Ala90=) AND Adenylosuccinate lyase deficiency
... 94 more