@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:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_head { this: np:hasAssertion dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_assertion; np:hasProvenance dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_provenance; np:hasPublicationInfo dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_publicationInfo; a np:Nanopublication . dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_assertion a np:Assertion . dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_provenance a np:Provenance . dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_publicationInfo a np:PublicationInfo . } dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_assertion { miriam-gene:84947 a ncit:C16612 . lld:C0574084 a ncit:C7057 . dgn-gda:DGN3050c75fd7567abd355fc4a48afcd9bc sio:SIO_000628 miriam-gene:84947, lld:C0574084; a sio:SIO_001121 . } dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_provenance { dgn-np:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_assertion dcterms:description "[The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect).]. 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:23296368; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP958669.RAGZpecwVg_aQKVJu_bmYlJ-YMmfhUk2SMW7uBpygR13s130_publicationInfo { this: dcterms:created "2015-08-25T14:47:25+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }