Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_assertion wasGeneratedBy ECO_0000203 NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_assertion wasDerivedFrom befree-20140225 NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_assertion SIO_000772 12610651 NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_assertion evidence source_evidence_literature NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_assertion description "[R542Q in SCN1A was observed in one autism family and had previously been identified in a patient with juvenile myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.
- befree-20140225 importedOn "2014-02-25" NP448138.RAaGnxrp54toYsA-PexEQA5iucUsFr0aOT0-RhMMrxCak130_provenance.