@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:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_head { this: np:hasAssertion dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion; np:hasProvenance dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance; np:hasPublicationInfo dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo; a np:Nanopublication . dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion a np:Assertion . dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance a np:Provenance . dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo a np:PublicationInfo . } dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion { miriam-gene:668 a ncit:C16612 . lld:C2931838 a ncit:C7057 . dgn-gda:DGNb567af210441e81729722164a3c202ea sio:SIO_000628 miriam-gene:668, lld:C2931838; a sio:SIO_001121 . } dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_provenance { dgn-np:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_assertion dcterms:description "[This is the first study to demonstrate that a significant number of missense mutations in the FHD of FOXL2 lead to mislocalization, protein aggregation and altered transactivation, and to provide insights into the pathogenesis associated with missense mutations of FOXL2 in human disease.]. 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:18372316; 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:NP607970.RAKo4-P5KFnEpllRZB1Hk1NM3vd5oun_243NmXt9QK82Y130_publicationInfo { this: dcterms:created "2014-10-02T12:38:05+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" . }