Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP983440.RADmi48_TOmuU1tNeW1y3nHFOFXSJ0YNuLdoEcOSrgbls#assertion> ?p ?o ?g. }
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- assertion description "[Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 11502818 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.