@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:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_head { this: np:hasAssertion dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion; np:hasProvenance dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_provenance; np:hasPublicationInfo dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_publicationInfo; a np:Nanopublication . dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion a np:Assertion . dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_provenance a np:Provenance . dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_publicationInfo a np:PublicationInfo . } dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion { miriam-gene:7490 a ncit:C16612 . lld:C0018054 a ncit:C7057 . dgn-gda:DGNd7c6a440b3ba8330702c0c16d1ff3556 sio:SIO_000628 miriam-gene:7490, lld:C0018054; a sio:SIO_001121 . } dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_provenance { dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion dcterms:description "[The design of the study was: 1) sequencing of the WT1 gene in 210 patients with 46,XY DSD from the German DSD network, consisting of 150 males with severe hypospadias (70 without cryptorchidism, 80 with at least one cryptorchid testis), 10 males with vanishing testes syndrome, and 50 raised females with partial to complete 46,XY gonadal dysgenesis; and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations.]. 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:21508141; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_publicationInfo { this: dcterms:created "2014-10-02T12:35:20+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }