Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_assertion description "[A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_assertion evidence source_evidence_curated NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_assertion SIO_000772 25401298 NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_assertion wasDerivedFrom ctd_human-20150221 NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_assertion wasGeneratedBy ECO_0000218 NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP29002.RAKMGrpEJCkWVG-rKo3uBYEGv7NPykIqKlYwZLqfk4zZs130_provenance.