Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion> ?p ?o ?g. }
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- NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_assertion type Assertion NP13278.RApsJDaQ6jAjmZSLPBhV1epcbWFbRAYJnr3OOq5LZj8PE130_head.
- 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.