@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:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_head { this: np:hasAssertion dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_assertion; np:hasProvenance dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_provenance; np:hasPublicationInfo dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_publicationInfo; a np:Nanopublication . dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_assertion a np:Assertion . dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_provenance a np:Provenance . dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_publicationInfo a np:PublicationInfo . } dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_assertion { miriam-gene:1861 a ncit:C16612 . lld:C0872410 a ncit:C7057 . dgn-gda:DGN0a5937565e1acbfb763a958c2be7c5a0 sio:SIO_000628 miriam-gene:1861, lld:C0872410; a sio:SIO_001121 . } dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_provenance { dgn-np:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_assertion dcterms:description "[A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs.]. 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:19457118; 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:NP692190.RAT7uemoksh99FwnDUIed6GhhezBw6hv0Q7ij_nNYCeTw130_publicationInfo { this: dcterms:created "2014-10-02T12:39:00+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" . }