GENETIC ENCYCLOPEDIA
ABOUT US
disease: Adenylosuccinate lyase deficiency
id
183
name
Adenylosuccinate 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