Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion wasGeneratedBy ECO_0000203 NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion wasDerivedFrom befree-20150227 NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion SIO_000772 21414825 NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion evidence source_evidence_literature NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.
- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_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." NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_provenance.