Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_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." NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion evidence source_evidence_curated NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion SIO_000772 11502818 NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion wasDerivedFrom ctd_human-20130708 NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion wasGeneratedBy ECO_0000218 NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_provenance.