Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_assertion description "[Normolipidemic patients with the rare disease cerebrotendinous xanthomatosis, lacking the enzyme sterol 27-hydroxylase (CYP27A1), develop prominent xanthomas in tendons and brain containing both cholestanol and cholesterol, with a cholestanol:cholesterol ratio higher than that in the circulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_assertion evidence source_evidence_curated NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_assertion SIO_000772 12117727 NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_assertion wasDerivedFrom ctd_human-20130708 NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_assertion wasGeneratedBy ECO_0000218 NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP13403.RATSn-SMbU8fQKDSrLPB--ecaeTMaERsd_-CVR4S3HXZk130_provenance.