@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:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_head { this: np:hasAssertion dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_assertion; np:hasProvenance dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_provenance; np:hasPublicationInfo dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_publicationInfo; a np:Nanopublication . dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_assertion a np:Assertion . dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_provenance a np:Provenance . dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_publicationInfo a np:PublicationInfo . } dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_assertion { miriam-gene:80704 a ncit:C16612 . lld:C0001614 a ncit:C7057 . dgn-gda:DGN8cdc3c9efcdd2bfe7035cc4a693880cd sio:SIO_000628 miriam-gene:80704, lld:C0001614; a sio:SIO_001121 . } dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_provenance { dgn-np:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_assertion dcterms:description "[Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging.]. 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:22777947; 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:NP657846.RAMml4Qy4S5psyPKL1wJmRJQeYY0HjpAmBInFV74nXrDw130_publicationInfo { this: dcterms:created "2014-10-02T12:38:36+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" . }