Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion> ?p ?o ?g. }
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- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion type Assertion NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_head.
- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_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." NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_provenance.
- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion evidence source_evidence_literature NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_provenance.
- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion SIO_000772 22776096 NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_provenance.
- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion wasDerivedFrom befree-20140225 NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_provenance.
- NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_assertion wasGeneratedBy ECO_0000203 NP327546.RAcWjjC5AJ1WhhbqDxoIKCEDbD8GDrNLFL1uxsKAkSP4U130_provenance.