@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:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_head { this: np:hasAssertion dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_assertion; np:hasProvenance dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_provenance; np:hasPublicationInfo dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_publicationInfo; a np:Nanopublication . dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_assertion a np:Assertion . dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_provenance a np:Provenance . dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_publicationInfo a np:PublicationInfo . } dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_assertion { miriam-gene:190 a ncit:C16612 . lld:C0271623 a ncit:C7057 . dgn-gda:DGN8c2881ed7717053a218b75c51ff5f86f sio:SIO_000628 miriam-gene:190, lld:C0271623; a sio:SIO_001121 . } dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_provenance { dgn-np:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_assertion dcterms:description "[We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 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:8864743; 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:NP1360025.RA4-GwT89Qgq8ZbB8TKW0HThw7alYkF8Luis1xSXAyd94130_publicationInfo { this: dcterms:created "2016-05-13T12:52:02+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" . }