@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGN6fd396ffa674d657937b2f4e798e63c8 sio:SIO_000628 miriam-gene:1806 , lld:C0004352 ; a sio:SIO_001121 . } sub:provenance { sub:assertion dcterms:description "[Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ; wi:evidence dgn-void:source_evidence_curated ; sio:SIO_000772 miriam-pubmed:21114665 ; prov:wasDerivedFrom dgn-void:CTD_human ; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:CTD_human pav:importedOn "2017-01-25"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205 ; rdfs:comment "Gene-disease associations manually curated."@en ; rdfs:label "DisGeNET evidence - CURATED"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:12:04+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }