Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion> ?p ?o ?g. }
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- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion type Assertion NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_head.
- 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.