@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:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_head { this: np:hasAssertion dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_assertion; np:hasProvenance dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_provenance; np:hasPublicationInfo dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_publicationInfo; a np:Nanopublication . dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_assertion a np:Assertion . dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_provenance a np:Provenance . dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_publicationInfo a np:PublicationInfo . } dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_assertion { miriam-gene:4000 a ncit:C16612 . lld:C0432291 a ncit:C7057 . dgn-gda:DGN4216e9f076f0ab6bd5fc99ffe6d17f50 sio:SIO_000628 miriam-gene:4000, lld:C0432291; a sio:SIO_001122 . } dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_provenance { dgn-np:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_assertion dcterms:description "[Analysis of the effect of the prevalent MAD mutation (R527H) over the transcriptional pattern of genes expressed in the human dermis showed that this LMNA gene mutation has pleiotropic effects on a limited number of genes.]. 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:15473259; 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:NP463698.RAIzY97MjjOUgGpX0mqziJeBDjwkHB_CNW3zJDsIN4CFM130_publicationInfo { this: dcterms:created "2016-05-13T12:45:15+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" . }