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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease acidemia, methylmalonic
Symptom C1839611|n syndrome
Sentences 1
PubMedID- 26475597 Background: the encephalomyopathic mtdna depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-coa ligase, caused by mutations in sucla2 or suclg1.

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