Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion description "[We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion evidence source_evidence_curated NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion SIO_000772 14608643 NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion wasDerivedFrom ctd_human-20130708 NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion wasGeneratedBy ECO_0000218 NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance.