Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_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." NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_assertion evidence source_evidence_curated NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_assertion SIO_000772 11502818 NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_assertion wasDerivedFrom ctd_human-2016 NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_assertion wasGeneratedBy ECO_0000218 NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP11444.RAO861gmT_TqtypFgvfw-kiAfm4FuwzYHwuab-sOGXiWo130_provenance.