Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_assertion description "[A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_assertion evidence source_evidence_curated NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_assertion SIO_000772 7550350 NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_assertion wasDerivedFrom uniprot-20130724 NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_assertion wasGeneratedBy ECO_0000218 NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1129.RADTmPTwuTNdg6hZBxN3p9UmQm1Iv-QVt1sfiEna_K87s130_provenance.