Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_assertion description "[Dermal fibroblasts derived from types I and IV Ehlers-Danlos syndrome (EDS) patients, carrying mutations in COL5A1 and COL3A1 genes, respectively, synthesize aberrant types V and III collagen (COLL) and show defective organization of these proteins into the extracellular matrix (ECM) and high reduction of their functional receptor, the alpha(2)beta(1) integrin, compared with control fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_assertion evidence source_evidence_literature NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_assertion SIO_000772 14970208 NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_assertion wasDerivedFrom befree-2016 NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_assertion wasGeneratedBy ECO_0000203 NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.
- befree-2016 importedOn "2016-02-19" NP432102.RA2iIudmDdSlmGeF6p2b1zkFoWw7gLov6awQ1xMPA3WDY130_provenance.