Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion> ?p ?o ?g. }
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- NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_assertion type Assertion NP373488.RAA2S4QNgbReQvS_WFvooZE9hCZ5T1NNKVNQ2zc8WHQXA130_head.
- 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.