Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_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." NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion evidence source_evidence_literature NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion SIO_000772 21576112 NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion wasDerivedFrom befree-20140225 NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion wasGeneratedBy ECO_0000203 NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.