http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#head http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#provenance http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://rdf.disgenet.org/resource/gda/DGN651d8b205666664b69dd7f56442a68db http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3145 http://rdf.disgenet.org/resource/gda/DGN651d8b205666664b69dd7f56442a68db http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162565 http://rdf.disgenet.org/resource/gda/DGN651d8b205666664b69dd7f56442a68db http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#provenance http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#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/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7962538 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/dc/terms/created 2017-10-17T13:13:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP508961.RA0bmSd2wmKL1TeWsxL9LvmkOrCZ7UsrViUfyJvwHN6CI 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