GENETIC ENCYCLOPEDIA
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disease: Adenylosuccinate lyase deficiency

id183
nameAdenylosuccinate lyase deficiency
variant-disease NM_000026.3(ADSL):c.736A>G (p.Lys246Glu) AND Adenylosuccinate lyase deficiency
NM_000026.3(ADSL):c.357+6C>T AND Adenylosuccinate lyase deficiency
NM_000026.3(ADSL):c.216C>T (p.Ile72=) AND Adenylosuccinate lyase deficiency
NM_000026.2(ADSL):c.247C>T (p.Arg83Cys) AND Adenylosuccinate lyase deficiency
NM_000026.3(ADSL):c.880T>C (p.Tyr294His) AND Adenylosuccinate lyase deficiency
... 77 more