Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_assertion description "[A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_assertion evidence source_evidence_curated NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_assertion SIO_000772 15249611 NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_assertion wasDerivedFrom uniprot-20130724 NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_assertion wasGeneratedBy ECO_0000218 NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3479.RAjau-eW_Gbv-tPh0bPihBV8uk4h5e_dxg_6jskTVzGf0130_provenance.