http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_head http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_assertion http://identifiers.org/ncbigene/100293534 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/C0852654 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#DGN460d75fbc32ce473e548f340a70c3673 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/100293534 http://rdf.disgenet.org/gene-disease-association.ttl#DGN460d75fbc32ce473e548f340a70c3673 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0852654 http://rdf.disgenet.org/gene-disease-association.ttl#DGN460d75fbc32ce473e548f340a70c3673 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_assertion http://purl.org/dc/terms/description [We speculate that the presence of the 6.8-kb insert in the human C4A and some C4B genes might largely be responsible for the great instability of this chromosomal region which leads to frequent duplications and deletions, some of which cause 21-hydroxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_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#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2347361 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_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#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_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#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/dc/terms/created 2014-10-02T12:37:38+02:00 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP560773.RAEFjc2OUxXtN9ga3GFUbHNXREEXGc2jxfciLrlvsV4MY 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