@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:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_head { this: np:hasAssertion dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_assertion; np:hasProvenance dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_provenance; np:hasPublicationInfo dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_publicationInfo; a np:Nanopublication . dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_assertion a np:Assertion . dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_provenance a np:Provenance . dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_publicationInfo a np:PublicationInfo . } dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_assertion { miriam-gene:6736 a ncit:C16612 . lld:C2936694 a ncit:C7057 . dgn-gda:DGN56e2769167525f8bacee3d3c694b6d55 sio:SIO_000628 miriam-gene:6736, lld:C2936694; a sio:SIO_001121 . } dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_provenance { dgn-np:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_assertion dcterms:description "[The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing.]. 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:1415266; 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:NP413219.RAM2fJlbtp4KJTPmvXpQ6D2ZKs-uMvzNLCigus4PzC5Cw130_publicationInfo { this: dcterms:created "2016-05-13T12:44:52+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" . }