@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:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_head { this: np:hasAssertion dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion; np:hasProvenance dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance; np:hasPublicationInfo dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo; a np:Nanopublication . dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion a np:Assertion . dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance a np:Provenance . dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo a np:PublicationInfo . } dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion { miriam-gene:4287 a ncit:C16612 . lld:C0024408 a ncit:C7057 . dgn-gda:DGN11a0a1d291b934cc7741aaa6e321b694 sio:SIO_000628 miriam-gene:4287, lld:C0024408; a sio:SIO_001121 . } dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance { dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion dcterms:description "[An unstable CAG trinucleotide repeat expansion in MJD gene on long arm of chromosome 14 has been identified as the pathologic mutation of MJD and apoptosis was previously shown to be responsible for the neuronal cell death of the disease.]. 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:15504352; 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:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo { this: dcterms:created "2016-05-13T12:45:16+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" . }