Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion> ?p ?o ?g. }
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- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion type Assertion NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_head.
- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion wasGeneratedBy ECO_0000203 NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_provenance.
- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion wasDerivedFrom befree-2016 NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_provenance.
- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion SIO_000772 20425789 NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_provenance.
- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_assertion evidence source_evidence_literature NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_provenance.
- NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_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." NP808855.RAbWBHWxuNy59Rwl6TDFffNboHEnQgORMFJKNkdKSeLh0130_provenance.