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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21414825 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.