Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_assertion description "[De novo mutations in HCN1 cause early infantile epileptic encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_assertion evidence source_evidence_curated NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_assertion SIO_000772 24747641 NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_assertion wasDerivedFrom ctd_human-20150221 NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_assertion wasGeneratedBy ECO_0000218 NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP16811.RAzS5Z1_DxgKBOhu1meFFqMmK7ibfWJrQ8tnm_pGyRAXs130_provenance.