Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- befree-2016 importedOn "2016-02-19" NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_assertion wasGeneratedBy ECO_0000203 NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_assertion wasDerivedFrom befree-2016 NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_assertion SIO_000772 19568270 NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_assertion evidence source_evidence_literature NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.
- NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_assertion description "[Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP748550.RA1_FBi-5OYjK-jBUK2vnG5duO44v_DbqQP_QyoQJK43o130_provenance.