@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_head { this: np:hasAssertion dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion; np:hasProvenance dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance; np:hasPublicationInfo dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo; a np:Nanopublication . dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion a np:Assertion . dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance a np:Provenance . dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo a np:PublicationInfo . } dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion { miriam-gene:1590 a ncit:C16612 . lld:C0520463 a ncit:C7057 . dgn-gda:DGN72e5cbb92c5aabe6ddda8bbb88140d49 sio:SIO_000628 miriam-gene:1590, lld:C0520463; a sio:SIO_001121 . } dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance { dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:9761237; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo { this: dcterms:created "2016-05-13T12:52:23+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }