http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_head http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_provenance http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://identifiers.org/ncbigene/5189 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/C0043459 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/DGNcc477d2bff3cb47cfc37d47037863aec http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5189 http://rdf.disgenet.org/resource/gda/DGNcc477d2bff3cb47cfc37d47037863aec http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0043459 http://rdf.disgenet.org/resource/gda/DGNcc477d2bff3cb47cfc37d47037863aec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_provenance http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://purl.org/dc/terms/description [To exclude that genetic differences, resulting in different defects in peroxisomal biogenesis, have differential effects on the activity of the cholesterol biosynthetic enzymes and on de novo cholesterol biosynthesis, we chose fibroblasts of patients with defined defects in one of four different PEX genes leading to Zellweger syndrome (PEX1, PEX5, PEX16 or PEX19).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14680974 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/dc/terms/created 2015-08-25T14:43:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP616255.RADel9dR8k9I0otIvQfoqLlSUwPELHQvJExXpmVGJMBH0 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0