Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion wasGeneratedBy ECO_0000203 NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion wasDerivedFrom befree-20150227 NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion SIO_000772 20425789 NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion evidence source_evidence_literature NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.
- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_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." NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_provenance.