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- assertion description "[Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18179882 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.