@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:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_head { this: np:hasAssertion dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_assertion; np:hasProvenance dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_provenance; np:hasPublicationInfo dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_publicationInfo; a np:Nanopublication . dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_assertion a np:Assertion . dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_provenance a np:Provenance . dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_publicationInfo a np:PublicationInfo . } dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_assertion { miriam-gene:773 a ncit:C16612 . lld:C0393525 a ncit:C7057 . dgn-gda:DGN38f2f61812b8203d6d2f4c1925cd50f6 sio:SIO_000628 miriam-gene:773, lld:C0393525; a sio:SIO_001121 . } dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_provenance { dgn-np:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_assertion dcterms:description "[Spinocerebellar ataxia (SCA) 6 is caused by small expansion of a polyglutamine sequence, encoded by CAG trinucleotide repeats, at the C-terminal end of the human CaV2.1 (P/Q-type) Ca2+ channel alpha12.1 subunit and it manifests itself as slowly progressive cerebellar ataxia.]. 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:15474358; 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:NP341706.RAVcv5nEOsnje6vIELfhYbvIW03TeUlJ2viygJMzRYCUU130_publicationInfo { this: dcterms:created "2014-10-02T12:35:21+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" . }