Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_assertion description "[Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_assertion evidence source_evidence_curated NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_assertion SIO_000772 25362483 NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_assertion wasDerivedFrom ctd_human-20150221 NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_assertion wasGeneratedBy ECO_0000218 NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP15376.RA096V5no1UV79N0Xm6Hqm0si6cMwdlCuztsByPoddXvg130_provenance.