@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:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_head { this: np:hasAssertion dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion; np:hasProvenance dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance; np:hasPublicationInfo dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo; a np:Nanopublication . dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion a np:Assertion . dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance a np:Provenance . dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo a np:PublicationInfo . } dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion { miriam-gene:1967 a ncit:C16612 . lld:C0023520 a ncit:C7057 . dgn-gda:DGNf75f6d854b800c702d655b5e75df1497 sio:SIO_000628 miriam-gene:1967, lld:C0023520; a sio:SIO_001121 . } dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance { dgn-np:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion dcterms:description "[We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.]. 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:20016818; 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:NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo { this: dcterms:created "2016-05-13T12:47:39+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" . }