@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:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_head { this: np:hasAssertion dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_assertion; np:hasProvenance dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_provenance; np:hasPublicationInfo dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_publicationInfo; a np:Nanopublication . dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_assertion a np:Assertion . dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_provenance a np:Provenance . dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_publicationInfo a np:PublicationInfo . } dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_assertion { miriam-gene:1641 a ncit:C16612 . lld:C0265219 a ncit:C7057 . dgn-gda:DGN3ac0f82255c446c6f38dd58ecc8d0f82 sio:SIO_000628 miriam-gene:1641, lld:C0265219; a sio:SIO_001121 . } dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_provenance { dgn-np:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_assertion dcterms:description "[We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS 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:10430413; 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:NP350696.RAm5fFDHuvSPLCPMprBJ_C3Ww8uCU53uRzo2J5aamy9KA130_publicationInfo { this: dcterms:created "2015-08-25T14:41:02+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" . }