Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_assertion description "[A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_assertion evidence source_evidence_literature NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_assertion SIO_000772 24095819 NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_assertion wasDerivedFrom befree-20150227 NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_assertion wasGeneratedBy ECO_0000203 NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP720033.RA89ZbUl7caCzGzq6vdsqQK4DzftDEchqKgD1EnCL5-hc130_provenance.