Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_assertion description "[Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_assertion evidence source_evidence_literature NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_assertion SIO_000772 15245761 NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_assertion wasDerivedFrom befree-20150227 NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_assertion wasGeneratedBy ECO_0000203 NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP314516.RARmb1HW2aYEHfbhaY1ROWbw1zABWJc7e3DIHfC8EIpIA130_provenance.