http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_head http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_provenance http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://identifiers.org/ncbigene/4519 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/C0018203 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/DGN341999c100af606ac3fb0030a425743b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4519 http://rdf.disgenet.org/resource/gda/DGN341999c100af606ac3fb0030a425743b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018203 http://rdf.disgenet.org/resource/gda/DGN341999c100af606ac3fb0030a425743b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_provenance http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://purl.org/dc/terms/description [Several other genes, including the alpha subunit of cytochrome B (CYBA), which is deleted or mutated in the autosomal form of chronic granulomatous disease, are located in the 16q24.3 region, but PCR amplification showed that this gene was present in the proband.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10479485 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/dc/terms/created 2015-08-25T14:43:22+02:00 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP574124.RAgBeuXjw07_pjDJBmSJ2Akz9yL-iQPp42-N9nP3KT9mo http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0