@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:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_head { this: np:hasAssertion dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_assertion; np:hasProvenance dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_provenance; np:hasPublicationInfo dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_publicationInfo; a np:Nanopublication . dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_assertion a np:Assertion . dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_provenance a np:Provenance . dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_publicationInfo a np:PublicationInfo . } dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_assertion { miriam-gene:1674 a ncit:C16612 . lld:C1853926 a ncit:C7057 . dgn-gda:DGN0f2947c532422a39c3ebc3361b31db02 sio:SIO_000628 miriam-gene:1674, lld:C1853926; a sio:SIO_001122 . } dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_provenance { dgn-np:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_assertion dcterms:description "[Suspected cases of mitochondrial neurogastrointestinal encephalopathy (MNGIE), myofibrillar myopathy (MFM) and distal myopathy with rimmed vacuoles (DMRV) were confirmed by molecular genetic studies examining thymidine phosphorylase, GNE, ZASP myotilin, desmin, abeta-crystalline and filamin C genes.]. 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:21294420; 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:NP870250.RAHf7KYUm4vubRC-Xth1AZnqZMhK7hN6jvZq7b65QrKJs130_publicationInfo { this: dcterms:created "2016-05-13T12:48:19+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" . }