Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_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." NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion evidence source_evidence_literature NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion SIO_000772 19002209 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion wasDerivedFrom befree-20140225 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_assertion wasGeneratedBy ECO_0000203 NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP256112.RAv0Yz9HU6ZmA4Ay1qY9Z-Rm_SrWFSPgsAyFfT9q3PguM130_provenance.