Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- befree-2016 importedOn "2016-02-19" NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_assertion wasGeneratedBy ECO_0000203 NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_assertion wasDerivedFrom befree-2016 NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_assertion SIO_000772 20425789 NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_assertion evidence source_evidence_literature NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.
- NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_assertion description "[Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP808854.RAgEOBKtDL7Dt_IHa_DoJaUCz_BXskITMjKxq7MaTKMxc130_provenance.