@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:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_head { this: np:hasAssertion dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion; np:hasProvenance dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance; np:hasPublicationInfo dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo; a np:Nanopublication . dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion a np:Assertion . dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance a np:Provenance . dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo a np:PublicationInfo . } dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion { miriam-gene:85358 a ncit:C16612 . lld:C0036857 a ncit:C7057 . dgn-gda:DGN5e1d3f643448f23606fe9c60bb63a710 sio:SIO_000628 miriam-gene:85358, lld:C0036857; a sio:SIO_001121 . } dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance { dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion dcterms:description "[The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects.]. 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:18523453; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo { this: dcterms:created "2016-05-13T12:46:51+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }