@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:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_head { this: np:hasAssertion dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion; np:hasProvenance dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance; np:hasPublicationInfo dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo; a np:Nanopublication . dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion a np:Assertion . dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance a np:Provenance . dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo a np:PublicationInfo . } dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion { miriam-gene:7436 a ncit:C16612 . lld:C0394006 a ncit:C7057 . dgn-gda:DGN6d6b0c061ddf9f044b99cd02cfd38504 sio:SIO_000628 miriam-gene:7436, lld:C0394006; a sio:SIO_001121 . } dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance { dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion dcterms:description "[We have delineated the phenotype associated with dysequilibrium syndrome in two Omani families and identified the first homozygous missense pathogenic mutation in VLDLR gene with likely founder effect in the southeastern part of the Arabian Peninsula.]. 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:22973972; 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:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo { this: dcterms:created "2014-10-02T12:36:12+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" . }