Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_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." NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_assertion evidence source_evidence_curated NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_assertion SIO_000772 7550350 NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_assertion wasDerivedFrom uniprot-2016 NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_assertion wasGeneratedBy ECO_0000218 NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8338.RAq3PJGSsyimbPDT_tmfRf2VF7waBVJZQBDXoBmno5XfY130_provenance.