Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_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." NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_assertion evidence source_evidence_curated NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_assertion SIO_000772 25401298 NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_assertion wasDerivedFrom ctd_human-2016 NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_assertion wasGeneratedBy ECO_0000218 NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP34989.RAGo68hhE19-wMa5PG2mdLtep3pPtVtqH-m8ipR79bOkw130_provenance.