Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion description "[Molecular diagnosis is provided by the identification of a mutation in the OPA1 gene (75% of DOA patients) or in the OPA3 gene (1% of patients).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion evidence source_evidence_literature NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion SIO_000772 22776096 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion wasDerivedFrom befree-2016 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion wasGeneratedBy ECO_0000203 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- befree-2016 importedOn "2016-02-19" NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.