Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_assertion description "[De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_assertion evidence source_evidence_literature NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_assertion SIO_000772 24255920 NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_assertion wasDerivedFrom befree-20150227 NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_assertion wasGeneratedBy ECO_0000203 NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978689.RAX-Q9_lTxWMfE4R1WUD7yHlH2hTHAFiQGVkmaDUZK6cw130_provenance.