@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:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_head { this: np:hasAssertion dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_assertion; np:hasProvenance dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_provenance; np:hasPublicationInfo dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_publicationInfo; a np:Nanopublication . dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_assertion a np:Assertion . dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_provenance a np:Provenance . dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_publicationInfo a np:PublicationInfo . } dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_assertion { miriam-gene:1760 a ncit:C16612 . lld:C0027126 a ncit:C7057 . dgn-gda:DGN622fd5fb5ed29f7caaeb304e16373a3b sio:SIO_000628 miriam-gene:1760, lld:C0027126; a sio:SIO_001121 . } dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_provenance { dgn-np:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_assertion dcterms:description "[We have recently proposed a model where disease pathogenesis may occur at the RNA level in myotonic dystrophy: the mutant DM kinase RNA with the expansion mutation may disrupt cellular RNA metabolism in some general manner, as evidenced by defects in RNA processing of the normal DM kinase gene in heterozygous patients (dominant negative RNA mutation).]. 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:9120013; 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:NP1371413.RASWJHy6J7uS3RBIHWFoRAaNQ5-r6jrWzHUQpUsSkVXFo130_publicationInfo { this: dcterms:created "2016-05-13T12:52:07+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" . }