@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:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_head { this: np:hasAssertion dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion; np:hasProvenance dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance; np:hasPublicationInfo dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo; a np:Nanopublication . dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion a np:Assertion . dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance a np:Provenance . dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion { miriam-gene:55364 a ncit:C16612 . lld:C0087012 a ncit:C7057 . dgn-gda:DGN245a7f6b0607921fee224d313c580d7d sio:SIO_000628 miriam-gene:55364, lld:C0087012; a sio:SIO_001121 . } dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance { dgn-np:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion dcterms:description "[An overlapping phenotypic presentation with its biological counterpart AFG3L2, which when mutated causes spinocerebellar ataxia type 28, is apparent and possibly suggests that abnormal levels of the SPG7 protein impact the function of the mitochondrial ATPases associated with diverse cellular activities-protease complex (formed by SPG7 and AFG3L2) in the cerebellum.]. 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:22964162; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo { this: dcterms:created "2016-05-13T12:49:24+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }