http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#head http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#assertion http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#provenance http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#assertion http://rdf.disgenet.org/resource/gda/DGN6fd7cadb61b5a5beba310c7b226b85f4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1371 http://rdf.disgenet.org/resource/gda/DGN6fd7cadb61b5a5beba310c7b226b85f4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162531 http://rdf.disgenet.org/resource/gda/DGN6fd7cadb61b5a5beba310c7b226b85f4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#provenance http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#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/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#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/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11309681 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#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/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/dc/terms/created 2017-10-17T13:11:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP237294.RAOFBQBW5_74Fyya0lEGMUsnmjaIUZmA07SqacEfZ_SBI 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