http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_head http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://identifiers.org/ncbigene/11097 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/C0282527 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/gene-disease-association.ttl#DGN34ea1acfdbd2719402ff1764679ec87d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/11097 http://rdf.disgenet.org/gene-disease-association.ttl#DGN34ea1acfdbd2719402ff1764679ec87d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0282527 http://rdf.disgenet.org/gene-disease-association.ttl#DGN34ea1acfdbd2719402ff1764679ec87d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://purl.org/dc/terms/description [In the present work, we found that peroxisomes were morphologically and biochemically formed at 30 but not 37 degrees C, in the fibroblasts from all CG1 IRD patients examined, whereas almost no peroxisomes were seen in ZS and NALD cells, even at 30 degrees C. A point missense mutation, G843D, was identified in the PEX1 allele of most CG1 IRD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9817926 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/dc/terms/created 2014-10-02T12:41:23+02:00 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP918160.RALAH5JKw5zI5avwli-j_YKONPuWE3aRn8MCwSpw7PMOQ http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0