@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:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_head { this: np:hasAssertion dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_assertion; np:hasProvenance dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_provenance; np:hasPublicationInfo dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_publicationInfo; a np:Nanopublication . dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_assertion a np:Assertion . dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_provenance a np:Provenance . dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_publicationInfo a np:PublicationInfo . } dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_assertion { miriam-gene:773 a ncit:C16612 . lld:C0752124 a ncit:C7057 . dgn-gda:DGNd80b36606c90b567c90d4b7bd6d39559 sio:SIO_000628 miriam-gene:773, lld:C0752124; a sio:SIO_001121 . } dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_provenance { dgn-np:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_assertion dcterms:description "[In view of the known role of p62 in protein degradation as well as aggresome/sequestosome formation, the p62 aggregate formation observed in the present study suggests that SCA6 not only is associated with an impairment of the calcium channel function and an elongated polyglutamine stretch in CACNA1A, but also with a defective protein handling by the protein quality control system.]. 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:19788049; 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:NP189153.RAMa6aVXc9DH9-7bFYOnekA3OXx6AVgjTs_rUNK46IrbM130_publicationInfo { this: dcterms:created "2014-10-02T12:33:44+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" . }