Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- befree-2016 importedOn "2016-02-19" NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_assertion wasGeneratedBy ECO_0000203 NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_assertion wasDerivedFrom befree-2016 NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_assertion SIO_000772 24412318 NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_assertion evidence source_evidence_literature NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.
- NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_assertion description "[The 2q31.1 deletion resulted in the loss of one copy of several known disease genes, including GAD1, DCAF17, SLC25A12 and ITGA6 associated with mental retardation and facial abnormalities and DLX1/DLX2 partially associated with limb abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1143946.RAAWgs3FOnmpg1i7I217KJmRJF4Xp6x5OB8N43v05rB6U130_provenance.