@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:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_head { this: np:hasAssertion dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion; np:hasProvenance dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance; np:hasPublicationInfo dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo; a np:Nanopublication . dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion a np:Assertion . dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance a np:Provenance . dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo a np:PublicationInfo . } dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion { miriam-gene:5048 a ncit:C16612 . lld:C0266463 a ncit:C7057 . dgn-gda:DGN6cf3864f9b84c556aeacc4ae96ba2a9a sio:SIO_000628 miriam-gene:5048, lld:C0266463; a sio:SIO_001121 . } dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance { dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion dcterms:description "[As sequence analysis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly.]. 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:9760204; 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:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo { this: dcterms:created "2014-10-02T12:33:36+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" . }