Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_assertion description "[The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_assertion evidence source_evidence_curated NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_assertion SIO_000772 17347258 NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_assertion wasDerivedFrom uniprot-20130724 NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_assertion wasGeneratedBy ECO_0000218 NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5735.RAJBMwny45dGcaVC4nsjwg_3S37M-ZDpqy1FB1IimrLjw130_provenance.