@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:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_head { this: np:hasAssertion dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_assertion ; np:hasProvenance dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_provenance ; np:hasPublicationInfo dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_publicationInfo ; a np:Nanopublication . dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_assertion a np:Assertion . dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_provenance a np:Provenance . dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_publicationInfo a np:PublicationInfo . } dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_assertion { miriam-gene:4885 a ncit:C16612 . lld:C1883552 a ncit:C7057 . dgn-gda:DGN011a38aec86b971a8d96339204a6b393 sio:SIO_000628 miriam-gene:4885 , lld:C1883552 ; a sio:SIO_001121 . } dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_provenance { dgn-np:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_assertion dcterms:description "[We performed 13 prenatal diagnoses for the NARP (neurogenic weakness, ataxia, retinitis pigmentosa) m.8993T-->G mtDNA mutation (p.Leu156Arg) in the ATP synthase subunit 6 gene.]. 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:17545557 ; 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:NP940023.RAOc-0FFscmxA46PLX7nZMeDgLauxcJjZSzd2W5Q2IJcI130_publicationInfo { this: dcterms:created "2014-10-02T12:41:36+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"^^xsd:string . dgn-void:disgenetrdf pav:version "v2.1.0"^^xsd:string . }