Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_assertion description "[A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_assertion evidence source_evidence_literature NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_assertion SIO_000772 22132097 NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_assertion wasDerivedFrom befree-2016 NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_assertion wasGeneratedBy ECO_0000203 NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.
- befree-2016 importedOn "2016-02-19" NP943144.RAWI_VGqzGjbu1lA6tRDWObIEln4a1FQzyQCli3vL3t-M130_provenance.