Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_assertion wasGeneratedBy ECO_0000203 NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_assertion wasDerivedFrom befree-20140225 NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_assertion SIO_000772 21414825 NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_assertion evidence source_evidence_literature NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_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." NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP631791.RAYRAxwxn3bAYGXx-uDAhviadFHGjHxqNwh-499QZkcXE130_provenance.