Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion> ?p ?o ?g. }
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- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion type Assertion NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_head.
- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion description "[P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant, skeletal malformations and severe genital ambiguity in both sexes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_provenance.
- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion evidence source_evidence_literature NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_provenance.
- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion SIO_000772 17223983 NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_provenance.
- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion wasDerivedFrom befree-20150227 NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_provenance.
- NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_assertion wasGeneratedBy ECO_0000203 NP763044.RAJRzDYcA7MlKcnTarOqnLYGluGDEH_A2A7ssXmrUhLcQ130_provenance.