@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:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_head { this: np:hasAssertion dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_assertion; np:hasProvenance dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_provenance; np:hasPublicationInfo dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_publicationInfo; a np:Nanopublication . dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_assertion a np:Assertion . dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_provenance a np:Provenance . dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_publicationInfo a np:PublicationInfo . } dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_assertion { miriam-gene:859 a ncit:C16612 . lld:C0018798 a ncit:C7057 . dgn-gda:DGNc6d436c2b8449598eb8abc7f6d4f194b sio:SIO_000628 miriam-gene:859, lld:C0018798; a sio:SIO_001121 . } dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_provenance { dgn-np:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_assertion dcterms:description "[Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.]. 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:21082655; 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:NP416996.RAt1q8XaYx8ks62Qu63S_fQEM9GUVttw0hP5Y0MbXpGuM130_publicationInfo { this: dcterms:created "2014-10-02T12:36:07+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" . }