Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_assertion description "[Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_assertion evidence source_evidence_literature NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_assertion SIO_000772 15681471 NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_assertion wasDerivedFrom befree-20150227 NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_assertion wasGeneratedBy ECO_0000203 NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP969224.RAQgw0MU2WmkccV7v9x8Xdat6CthagmqeTpGbxRCiQxXE130_provenance.