Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_assertion description "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_assertion evidence source_evidence_literature NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_assertion SIO_000772 16302874 NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_assertion wasDerivedFrom befree-20140225 NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_assertion wasGeneratedBy ECO_0000203 NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.
- befree-20140225 importedOn "2014-02-25" NP423884.RA9e8sPHVdCRQkP8nqkY7NG1oJTkp2tkwau7Ho0QMTnig130_provenance.