http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#head http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#assertion http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#provenance http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#assertion http://rdf.disgenet.org/resource/gda/DGN9394df5aa3a6ee9130ee06b3cc10b810 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23600 http://rdf.disgenet.org/resource/gda/DGN9394df5aa3a6ee9130ee06b3cc10b810 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3280428 http://rdf.disgenet.org/resource/gda/DGN9394df5aa3a6ee9130ee06b3cc10b810 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#provenance http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#assertion http://purl.org/dc/terms/description [Investigation of these pathways and the diseases associated with mutations in enzymes involved in the degradation of phytanic acid have led to the clarification of the pathophysiology of Refsum's disease, rhizomelic chondrodysplasia and AMACR (alpha-methylacyl-CoA racemase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#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/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17956237 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#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/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/dc/terms/created 2017-10-17T13:18:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1267510.RA1Yf4mz4wk4FtmI1WWql2FPRoS8YR9o3c_jFpRE0CoP4 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