http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_head http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://identifiers.org/ncbigene/1590 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/C0520463 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/DGN72e5cbb92c5aabe6ddda8bbb88140d49 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1590 http://rdf.disgenet.org/resource/gda/DGN72e5cbb92c5aabe6ddda8bbb88140d49 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0520463 http://rdf.disgenet.org/resource/gda/DGN72e5cbb92c5aabe6ddda8bbb88140d49 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://purl.org/dc/terms/description [A major challenge in molecular diagnostics of CAH is the high homology between the CYP21 gene and the CYP21P pseudogene and the phenomenon of apparent gene conversion, which inactivates the functional gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_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/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9761237 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_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/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/dc/terms/created 2016-05-13T12:52:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig 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