@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:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_head { this: np:hasAssertion dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_assertion; np:hasProvenance dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_provenance; np:hasPublicationInfo dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_publicationInfo; a np:Nanopublication . dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_assertion a np:Assertion . dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_provenance a np:Provenance . dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_publicationInfo a np:PublicationInfo . } dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_assertion { miriam-gene:1605 a ncit:C16612 . lld:C0265221 a ncit:C7057 . dgn-gda:DGN344f40b6621f014548a371822c35bf91 sio:SIO_000628 miriam-gene:1605, lld:C0265221; a sio:SIO_001121 . } dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_provenance { dgn-np:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_assertion dcterms:description "[GTDC2's predicted role as an uncharacterized glycosyltransferase is consistent with the function of other genes that are known to be mutated in WWS and that are involved in the glycosylation of the transmembrane receptor dystroglycan.]. 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:22958903; 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:NP1011196.RAjzJbk_BkqAi4wI8gyilawT1UcwVm00re6xmkkqjcmok130_publicationInfo { this: dcterms:created "2016-05-13T12:49:24+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" . }