Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP273734.RAY1j4_l1Tn493aWTXkzPLzrKDkTIfNGT7RIsQi6eowG0#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 12117727 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.