http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_head http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://identifiers.org/ncbigene/1593 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0238052 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN78392603aad1aa04837e585d9b20b5b0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1593 http://rdf.disgenet.org/resource/gda/DGN78392603aad1aa04837e585d9b20b5b0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238052 http://rdf.disgenet.org/resource/gda/DGN78392603aad1aa04837e585d9b20b5b0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://purl.org/dc/terms/description [The classical symptoms and signs, namely elevated levels of cholestanol and bile alcohols in serum and urine, brain MRI, and the mutation in the CYP27A1 gene confirm the diagnosis of CTX.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25424010 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/dc/terms/created 2016-05-13T12:51:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0