@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:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_head { this: np:hasAssertion dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion; np:hasProvenance dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance; np:hasPublicationInfo dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo; a np:Nanopublication . dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion a np:Assertion . dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance a np:Provenance . dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo a np:PublicationInfo . } dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion { miriam-gene:91942 a ncit:C16612 . lld:C0001614 a ncit:C7057 . dgn-gda:DGNffae60ec9912e5795a23f18ed2e47a54 sio:SIO_000628 miriam-gene:91942, lld:C0001614; a sio:SIO_001121 . } dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance { dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion dcterms:description "[The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus, the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene.]. 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:18180188; 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:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo { this: dcterms:created "2014-10-02T12:39:12+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" . }