Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1218800.RAH1BoQRrPSbXWtG9SFJJR-vSEiDqvYgTkGmtpJmtUBeo#assertion> ?p ?o ?g. }
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- assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21576112 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.