Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_assertion description "[We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in DGCR2, a gene located in the schizophrenia-predisposing 22q11.2 microdeletion region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_assertion evidence source_evidence_curated NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_assertion SIO_000772 21822266 NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_assertion wasDerivedFrom ctd_human-20150221 NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_assertion wasGeneratedBy ECO_0000218 NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP12528.RADez-XGdE2P9m8s50CPNgeA5I2tAgsrJzN-1D3WDK2sc130_provenance.