http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#head http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#assertion http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#provenance http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#assertion http://rdf.disgenet.org/resource/gda/DGNb80ee764629c8d17814bc1d10edb2410 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3145 http://rdf.disgenet.org/resource/gda/DGNb80ee764629c8d17814bc1d10edb2410 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162565 http://rdf.disgenet.org/resource/gda/DGNb80ee764629c8d17814bc1d10edb2410 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#provenance http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#assertion http://purl.org/dc/terms/description [Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#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/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7962538 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#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/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/dc/terms/created 2017-10-17T13:13:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP508975.RAo08O7JBp_TyaIRES5ifNKrnk3VmtXo8K1VcyUC0aa-Q 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