Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_assertion description "[When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24-32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_assertion evidence source_evidence_literature NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_assertion SIO_000772 19002209 NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_assertion wasDerivedFrom befree-20140225 NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_assertion wasGeneratedBy ECO_0000203 NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.
- befree-20140225 importedOn "2014-02-25" NP918762.RAEVDHYDLEyYwi20IODSURUBHJ41Kt6W06ocr__e41A58130_provenance.