Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_assertion description "[Our findings demonstrate a novel genomic disorder characterised by deletion of BMP2 with variable cognitive deficits and dysmorphic features and show that individuals bearing microdeletions in 20p12.3 often present with WPW syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_assertion evidence source_evidence_literature NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_assertion SIO_000772 18812404 NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_assertion wasDerivedFrom befree-20140225 NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_assertion wasGeneratedBy ECO_0000203 NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.
- befree-20140225 importedOn "2014-02-25" NP599532.RAQsV-sCvebH2i7qXDCADai5JOcNC5dUB8K4g3EfUeuis130_provenance.