@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:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_head { this: np:hasAssertion dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_assertion; np:hasProvenance dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_provenance; np:hasPublicationInfo dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_publicationInfo; a np:Nanopublication . dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_assertion a np:Assertion . dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_provenance a np:Provenance . dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_assertion { miriam-gene:2798 a ncit:C16612 . lld:C0271623 a ncit:C7057 . dgn-gda:DGNbde4d84a94f2c2645c3f6154c3dfe5be sio:SIO_000628 miriam-gene:2798, lld:C0271623; a sio:SIO_001121 . } dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_provenance { dgn-np:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_assertion dcterms:description "[Also this report, complementing others, demonstrates that mutations are distributed throughout the GnRH-R gene and that as in the only other homozygous mutation previously described, affected patients present a complete form of hypogonadotrophic hypogonadism.]. 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:11318785; 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:NP315765.RA0lSftk7Ih2UPGFskFCmCubaMDDEkInHPsMbgSNskweQ130_publicationInfo { this: dcterms:created "2016-05-13T12:44:08+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" . }