@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:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_head { this: np:hasAssertion dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_assertion; np:hasProvenance dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_provenance; np:hasPublicationInfo dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_publicationInfo; a np:Nanopublication . dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_assertion a np:Assertion . dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_provenance a np:Provenance . dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_publicationInfo a np:PublicationInfo . } dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_assertion { miriam-gene:2010 a ncit:C16612 . lld:C0026850 a ncit:C7057 . dgn-gda:DGNf66e7f913e56c6d4ece26b0806b4d2e0 sio:SIO_000628 miriam-gene:2010, lld:C0026850; a sio:SIO_001122 . } dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_provenance { dgn-np:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_assertion dcterms:description "[The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P).]. 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:16772334; 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:NP554387.RAnS7VywktLzHlIAc49QoDQjPZPl-KFAs7h5QtkwHxdbw130_publicationInfo { this: dcterms:created "2016-05-13T12:45:56+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" . }