@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:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_head { this: np:hasAssertion dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_assertion; np:hasProvenance dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_provenance; np:hasPublicationInfo dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_publicationInfo; a np:Nanopublication . dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_assertion a np:Assertion . dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_provenance a np:Provenance . dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_publicationInfo a np:PublicationInfo . } dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_assertion { miriam-gene:367 a ncit:C16612 . lld:C0158687 a ncit:C7057 . dgn-gda:DGN3d93cbc28c5fd81f4ebc4bd243991779 sio:SIO_000628 miriam-gene:367, lld:C0158687; a sio:SIO_001122 . } dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_provenance { dgn-np:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_assertion dcterms:description "[We conclude that AR gene mutations or polymorphisms are not a common factor influencing the degree of hyperandrogenic symptoms displayed by CAH girls, and that the AR E653K mutation is compatible with normal genital development, although it can cause genital malformations in susceptible individuals.]. 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:12050225; 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:NP357023.RAdU2StD-GZ2zoN0Lc9EYUPQ4N6otimOYntwylAH8BEeo130_publicationInfo { this: dcterms:created "2016-05-13T12:44:27+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" . }