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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 25351951 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.