Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1218807.RAjuxhQ9xuGlfjzGWFwAfyiHtZvhWkCyTJg5q3Oa2AJmo#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in major structural components of elastic fibres, especially elastin, fibrillins and fibulin-5, cause severe, often life-threatening, heritable connective tissue diseases such as Marfan syndrome, supravalvular aortic stenosis and cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16893474 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.