Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_assertion description "[Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_assertion evidence source_evidence_curated NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_assertion SIO_000772 21264219 NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_assertion wasDerivedFrom ctd_human-20130708 NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_assertion wasGeneratedBy ECO_0000218 NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP13231.RAt4DU9o3C9FwsUODtzy-do0uEg-LWktQNzrk2EzKG3AA130_provenance.