@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:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_head { this: np:hasAssertion dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_assertion; np:hasProvenance dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_provenance; np:hasPublicationInfo dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_publicationInfo; a np:Nanopublication . dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_assertion a np:Assertion . dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_provenance a np:Provenance . dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_publicationInfo a np:PublicationInfo . } dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_assertion { miriam-gene:23345 a ncit:C16612 . lld:C0013362 a ncit:C7057 . dgn-gda:DGNc6855aaffa8b7c86387ad402afe494bd sio:SIO_000628 miriam-gene:23345, lld:C0013362; a sio:SIO_001121 . } dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_provenance { dgn-np:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_assertion dcterms:description "[Based on the cases examined, ARCA-1 is a cerebellar syndrome characterized by recessive transmission, middle-age onset (mean, 31.60; range, 17-46 years), slow progression and moderate disability, significant dysarthria, mild oculomotor abnormalities, occasional brisk reflexes in the lower extremities, normal nerve conduction studies, and diffuse cerebellar atrophy on 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:17503513; 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:NP315567.RAZtzqS7z_EJQ45fa_R2lpDoP-a7Q_F3ddFQCfNqAx9m4130_publicationInfo { this: dcterms:created "2014-10-02T12:35:01+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" . }