@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:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_head { this: np:hasAssertion dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_assertion; np:hasProvenance dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_provenance; np:hasPublicationInfo dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_publicationInfo; a np:Nanopublication . dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_assertion a np:Assertion . dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_provenance a np:Provenance . dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_publicationInfo a np:PublicationInfo . } dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_assertion { miriam-gene:1586 a ncit:C16612 . lld:C1291557 a ncit:C7057 . dgn-gda:DGN564076a9a51299ffd17fb32693087599 sio:SIO_000628 miriam-gene:1586, lld:C1291557; a sio:SIO_001121 . } dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_provenance { dgn-np:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_assertion dcterms:description "[Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.]. 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:19169487; 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:NP716504.RAgHTdJepkg-SgB0CDPzEE9XazaBDX8aVioewPRJBWPzc130_publicationInfo { this: dcterms:created "2016-05-13T12:47:10+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" . }