http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_head http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_provenance http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://identifiers.org/ncbigene/130749 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/C0162531 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/DGN316e44889949e12d06c1437640ecd0b0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/130749 http://rdf.disgenet.org/resource/gda/DGN316e44889949e12d06c1437640ecd0b0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162531 http://rdf.disgenet.org/resource/gda/DGN316e44889949e12d06c1437640ecd0b0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_provenance http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://purl.org/dc/terms/description [Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause homozygous HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11309681 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/dc/terms/created 2016-05-13T12:44:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP314999.RANdvauX44C31Pk-9I2efqo08kFkBhNUMIVI7jfz2dv0g http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0