@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:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_head { this: np:hasAssertion dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion; np:hasProvenance dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance; np:hasPublicationInfo dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo; a np:Nanopublication . dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion a np:Assertion . dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance a np:Provenance . dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo a np:PublicationInfo . } dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion { miriam-gene:5048 a ncit:C16612 . lld:C0037769 a ncit:C7057 . dgn-gda:DGNc98a757b08b965adf7879cbd1ce9823d sio:SIO_000628 miriam-gene:5048, lld:C0037769; a sio:SIO_001121 . } dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance { dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion dcterms:description "[Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms.]. 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:16806828; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo { this: dcterms:created "2015-08-25T14:43:42+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }