@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:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_head { this: np:hasAssertion dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_assertion; np:hasProvenance dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_provenance; np:hasPublicationInfo dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_publicationInfo; a np:Nanopublication . dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_assertion a np:Assertion . dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_provenance a np:Provenance . dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_publicationInfo a np:PublicationInfo . } dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_assertion { miriam-gene:152330 a ncit:C16612 . lld:C0036572 a ncit:C7057 . dgn-gda:DGNc6ef0add3f1002766816913633ade956 sio:SIO_000628 miriam-gene:152330, lld:C0036572; a sio:SIO_001121 . } dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_provenance { dgn-np:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_assertion dcterms:description "[We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism; and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates.]. 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:18179895; 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:NP175801.RAVvnShq_T5S932eR03R1CFO7ec-SNySPvlaiBlky3f00130_publicationInfo { this: dcterms:created "2014-10-02T12:33:35+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" . }