Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion> ?p ?o ?g. }
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- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion type Assertion NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_head.
- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_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." NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_provenance.
- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion evidence source_evidence_curated NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_provenance.
- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion SIO_000772 11502818 NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_provenance.
- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion wasDerivedFrom ctd_human-20150221 NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_provenance.
- NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_assertion wasGeneratedBy ECO_0000218 NP31298.RAGlIWTR0SxoWYlZUvSDp7IEq-IUhRflb7aASi1TWX82E130_provenance.