Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_assertion description "[Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_assertion evidence source_evidence_literature NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_assertion SIO_000772 22607287 NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_assertion wasDerivedFrom befree-20140225 NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_assertion wasGeneratedBy ECO_0000203 NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP714493.RAeuAKvrxowhDf54u5yPcl2855oFRoq3VjpN2yJsDHbGM130_provenance.