http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_head http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://identifiers.org/ncbigene/5498 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/C0009951 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/gene-disease-association.ttl#DGN24879eb05bab0627cdda3dc71dab1816 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5498 http://rdf.disgenet.org/gene-disease-association.ttl#DGN24879eb05bab0627cdda3dc71dab1816 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009951 http://rdf.disgenet.org/gene-disease-association.ttl#DGN24879eb05bab0627cdda3dc71dab1816 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://purl.org/dc/terms/description [The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short stature, mental retardation and convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9811936 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/dc/terms/created 2014-10-02T12:39:51+02:00 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0