Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_assertion description "[Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_assertion evidence source_evidence_curated NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_assertion SIO_000772 20412115 NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_assertion wasDerivedFrom ctd_human-20130708 NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_assertion wasGeneratedBy ECO_0000218 NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP22378.RArdOBdzV51kn7KlauJ9RvevtWkj9ro8aFa_vTgjQKA7c130_provenance.