Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_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." NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion evidence source_evidence_literature NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion SIO_000772 12615648 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion wasDerivedFrom befree-2016 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_assertion wasGeneratedBy ECO_0000203 NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.
- befree-2016 importedOn "2016-02-19" NP385495.RALszuQlDOSER8yYXnegai48yShqy0Rm5oNq1lTqoac8o130_provenance.