RS758008398 MMUT
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What This Variant Does
"aka c.678_679insAATTTATG, p.Val227fs
Associated Conditions
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Other Variants in MMUT