Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_assertion description "[A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_assertion evidence source_evidence_literature NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_assertion SIO_000772 12615648 NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_assertion wasDerivedFrom befree-20150227 NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_assertion wasGeneratedBy ECO_0000203 NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP936297.RAumAb95Pyi89rbCS76cONL49fhQNuB6z_hv1QHFIMRQY130_provenance.