http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_head http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://identifiers.org/ncbigene/55364 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0087012 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN245a7f6b0607921fee224d313c580d7d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55364 http://rdf.disgenet.org/resource/gda/DGN245a7f6b0607921fee224d313c580d7d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0087012 http://rdf.disgenet.org/resource/gda/DGN245a7f6b0607921fee224d313c580d7d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22964162 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/dc/terms/created 2016-05-13T12:49:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1011708.RAVV4me9Md6azVYfasgjiF__Nx3KHi-o-DXrX7GkmS6w4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0