@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:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_head { this: np:hasAssertion dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_assertion; np:hasProvenance dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_provenance; np:hasPublicationInfo dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_publicationInfo; a np:Nanopublication . dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_assertion a np:Assertion . dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_provenance a np:Provenance . dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_assertion { miriam-gene:10667 a ncit:C16612 . lld:C0751651 a ncit:C7057 . dgn-gda:DGNf0330ad44d2f9fd46d940a94f5cfc180 sio:SIO_000628 miriam-gene:10667, lld:C0751651; a sio:SIO_001121 . } dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_provenance { dgn-np:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_assertion dcterms:description "[While these siblings had considerable developmental difficulties, they are making consistent developmental progress and appear to be considerably less severely affected than the other patients reported in the literature with FARS2 associated mitochondrial 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:25851414; 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:NP1276443.RApGGYjLUMeEAEJ0mZoVk61_luvnDiTr4utEnoHSefbV8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:24+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" . }