@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:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_head { this: np:hasAssertion dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_assertion; np:hasProvenance dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_provenance; np:hasPublicationInfo dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_publicationInfo; a np:Nanopublication . dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_assertion a np:Assertion . dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_provenance a np:Provenance . dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_publicationInfo a np:PublicationInfo . } dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_assertion { miriam-gene:1716 a ncit:C16612 . lld:C0085584 a ncit:C7057 . dgn-gda:DGN9748ae955a7c27cc1a37473aac039235 sio:SIO_000628 miriam-gene:1716, lld:C0085584; a sio:SIO_001121 . } dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_provenance { dgn-np:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_assertion dcterms:description "[The phenotype was distinctive for each gene, with hepatic failure and encephalopathy associated with mutations in the deoxyguanosine kinase gene and isolated devastating myopathy as the sole manifestation of thymidine kinase 2 deficiency.]. 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:12110944; 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:NP416913.RA6HwmyQl2YRxZJ9qUYKFihneNdhe2replU8QgdZoTLq0130_publicationInfo { this: dcterms:created "2014-10-02T12:36:07+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" . }