@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:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_head { this: np:hasAssertion dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_assertion; np:hasProvenance dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_provenance; np:hasPublicationInfo dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_publicationInfo; a np:Nanopublication . dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_assertion a np:Assertion . dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_provenance a np:Provenance . dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_publicationInfo a np:PublicationInfo . } dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_assertion { miriam-gene:7531 a ncit:C16612 . lld:C0342782 a ncit:C7057 . dgn-gda:DGN462683cb41cc2dfa2096f8e7d95c1eb3 sio:SIO_000628 miriam-gene:7531, lld:C0342782; a sio:SIO_001121 . } dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_provenance { dgn-np:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_assertion dcterms:description "[The severe mitochondrial DNA depletion syndrome (MDS) has been associated with mutations in TK2, resulting in mtDNA depletion, isolated skeletal myopathy, and death of the individual at an early stage of life.]. 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:22571666; 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:NP237706.RAaN__EaQKqVq8Z2uRsNWBuwpmakYNAp85Llbu7ZZm1GU130_publicationInfo { this: dcterms:created "2014-10-02T12:34:13+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" . }