Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_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." NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_assertion evidence source_evidence_literature NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_assertion SIO_000772 19002209 NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_assertion wasDerivedFrom befree-20140225 NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_assertion wasGeneratedBy ECO_0000203 NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP551740.RA2n67FviqktW6N04xl93142Lb7Y8wmPNp7FD2pa4FbMw130_provenance.