http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_head
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://identifiers.org/ncbigene/7390
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/C0162530
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/DGN6533b9e3f2fd74c7b17aabb067c48ac6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7390
http://rdf.disgenet.org/resource/gda/DGN6533b9e3f2fd74c7b17aabb067c48ac6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0162530
http://rdf.disgenet.org/resource/gda/DGN6533b9e3f2fd74c7b17aabb067c48ac6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://purl.org/dc/terms/description
[These advances have also led to the identification of causative genetic defects in patients who, based on molecular studies, had no mutations in the uroporphyrinogen III synthase gene UROS (in CEP) or in the ferrochelatase gene FECH (in EPP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_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/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22766189
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_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/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/dc/terms/created
2016-05-13T12:49:16+02:00
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
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