Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_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." NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_assertion evidence source_evidence_curated NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_assertion SIO_000772 21264219 NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_assertion wasDerivedFrom ctd_human-20150221 NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_assertion wasGeneratedBy ECO_0000218 NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP11934.RA987zehZXK-UBOg_jLZcGce28g8CD4JbP-7TahLHUztA130_provenance.