@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:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_head { this: np:hasAssertion dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_assertion; np:hasProvenance dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_provenance; np:hasPublicationInfo dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_publicationInfo; a np:Nanopublication . dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_assertion a np:Assertion . dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_provenance a np:Provenance . dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_publicationInfo a np:PublicationInfo . } dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_assertion { miriam-gene:9211 a ncit:C16612 . lld:C2931469 a ncit:C7057 . dgn-gda:DGN3069379a9841543d166ff3d9c2ab7900 sio:SIO_000628 miriam-gene:9211, lld:C2931469; a sio:SIO_001121 . } dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_provenance { dgn-np:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_assertion dcterms:description "[In families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phenotypic features with mutation location and predicted effect (truncation or missense).]. 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:22323750; 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:NP371450.RAd0xYfNGrtuLRk-by4PLuB8bd_EI1_NnHFSOObVFod4U130_publicationInfo { this: dcterms:created "2014-10-02T12:35:37+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" . }