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disease: AICAR transformylase/IMP cyclohydrolase deficiency

id43
nameAICAR transformylase/IMP cyclohydrolase deficiency
variant-disease NM_004044.6(ATIC):c.794delT (p.Phe265Serfs) AND AICAR transformylase/IMP cyclohydrolase deficiency
ATIC, 125-129DUP, 130-132DEL AND AICAR transformylase/IMP cyclohydrolase deficiency
NM_004044.6(ATIC):c.1277A>G (p.Lys426Arg) AND AICAR transformylase/IMP cyclohydrolase deficiency
NM_004044.6(ATIC):c.1751A>G (p.His584Arg) AND AICAR transformylase/IMP cyclohydrolase deficiency