@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:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_head { this: np:hasAssertion dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_assertion; np:hasProvenance dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_provenance; np:hasPublicationInfo dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_publicationInfo; a np:Nanopublication . dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_assertion a np:Assertion . dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_provenance a np:Provenance . dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_publicationInfo a np:PublicationInfo . } dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_assertion { miriam-gene:7203 a ncit:C16612 . lld:C0410226 a ncit:C7057 . dgn-gda:DGN70fb5b1990aab3a9b89c13277b0e2202 sio:SIO_000628 miriam-gene:7203, lld:C0410226; a sio:SIO_001121 . } dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_provenance { dgn-np:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_assertion dcterms:description "[Expansion of non-coding CTG and CCTG repeats in the 3' UTR of the myotonin protein kinase (DMPK) gene in Myotonic Dystrophy type 1 (DM1) and in the intron 1 of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy type 2 (DM2) represent typical non-coding mutations that cause the diseases mainly through transdominant effect on the RNA metabolism (splicing, translation and RNA stability).]. 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:20458885; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP758083.RAMzNxRb2acD-ZWE4p6e6AY2XNSuYiTDYjrxLGS4dL8_0130_publicationInfo { this: dcterms:created "2015-08-25T14:45:17+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }