Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- befree-2016 importedOn "2016-02-19" NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion wasGeneratedBy ECO_0000203 NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion wasDerivedFrom befree-2016 NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion SIO_000772 19568270 NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion evidence source_evidence_literature NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.
- NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_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." NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance.