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- source_evidence_literature type ECO_0000212 NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_assertion description "[Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_assertion evidence source_evidence_literature NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_assertion SIO_000772 19734009 NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_assertion wasDerivedFrom befree-2016 NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_assertion wasGeneratedBy ECO_0000203 NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP761549.RAlSig20Z8rqoGLXSMDdKVFWRJ0ZEaJS5qOljY43uml-Y130_provenance.