@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:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_head { this: np:hasAssertion dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_assertion; np:hasProvenance dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_provenance; np:hasPublicationInfo dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_publicationInfo; a np:Nanopublication . dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_assertion a np:Assertion . dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_provenance a np:Provenance . dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_publicationInfo a np:PublicationInfo . } dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_assertion { miriam-gene:4514 a ncit:C16612 . lld:C0023264 a ncit:C7057 . dgn-gda:DGN64417451572f3e145fb5fe0802559ea4 sio:SIO_000628 miriam-gene:4514, lld:C0023264; a sio:SIO_001122 . } dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_provenance { dgn-np:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_assertion dcterms:description "[Three cases with m.8993T>G mutation, two patients with the novel m.5523T>G and m.5559A>G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome c oxidase subunit III (COXIII) gene were found with LS.]. 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:23301511; 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:NP574063.RALMDf_npxJZz-rQ0Z1gA1hqyE8xzo-_M9SqhaKAioEh8130_publicationInfo { this: dcterms:created "2015-08-25T14:43:22+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" . }