Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion> ?p ?o ?g. }
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- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion type Assertion NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_head.
- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_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." NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_provenance.
- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion evidence source_evidence_curated NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_provenance.
- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion SIO_000772 12117727 NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_provenance.
- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion wasDerivedFrom ctd_human-20150221 NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_provenance.
- NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_assertion wasGeneratedBy ECO_0000218 NP12123.RAdvTOlLeAzMYAZq_thAIvL6FjAu6KrQHLZu5ulVQEhfk130_provenance.