Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion> ?p ?o ?g. }
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- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion type Assertion NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_head.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion wasGeneratedBy ECO_0000203 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion wasDerivedFrom befree-2016 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion SIO_000772 22776096 NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_provenance.
- NP996188.RAc0DUcUbOKw8eqek6rjFIcQ5SsN8Q_SerqPHCMFSOcow130_assertion evidence source_evidence_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.