@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:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_head { this: np:hasAssertion dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_assertion; np:hasProvenance dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_provenance; np:hasPublicationInfo dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_publicationInfo; a np:Nanopublication . dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_assertion a np:Assertion . dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_provenance a np:Provenance . dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_publicationInfo a np:PublicationInfo . } dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_assertion { miriam-gene:6311 a ncit:C16612 . lld:C0013384 a ncit:C7057 . dgn-gda:DGN532ef0c9cb49db551af9639435ac4735 sio:SIO_000628 miriam-gene:6311, lld:C0013384; a sio:SIO_001121 . } dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_provenance { dgn-np:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_assertion dcterms:description "[This family expands the phenotypic spectrum of early onset SCA2 and points out the importance of considering SCA2 gene analysis in children with progressive neurological impairment and abnormal movements with or without polyphagia.]. 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:18297329; 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:NP347705.RAABJzWMo1unX2nsfQwKWx7PXdNsdAIIP0P4-yXQs7fq8130_publicationInfo { this: dcterms:created "2014-10-02T12:35:24+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" . }