http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#head http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#provenance http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://rdf.disgenet.org/resource/gda/DGN8bcb65eec698ac13cb08006320f2411c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1593 http://rdf.disgenet.org/resource/gda/DGN8bcb65eec698ac13cb08006320f2411c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238052 http://rdf.disgenet.org/resource/gda/DGN8bcb65eec698ac13cb08006320f2411c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#provenance http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://purl.org/dc/terms/description [We conclude that CTX in this English pedigree is probably due to compound mutant alleles in CYP27, that combined hyperlipidaemia in this family is unrelated to CTX, and that this complicated condition responds optimally to the combination of CDCA and simvastatin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8730343 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/dc/terms/created 2017-10-17T13:11:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP273715.RAkpmMUAQ_f2xFKHKiLubz3FuE5wppF8GbJtzN7A_HAAA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0