Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion> ?p ?o ?g. }
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- NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_assertion type Assertion NP576573.RAnqNiCijfcn5hp5nykS85Dwr5ZhSHucrfxhVR_8L-kVU130_head.
- 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.