@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:DGN7ed122a9b37368b0148949f4eb3d651a sio:SIO_000628 miriam-gene:445 , lld:C1863844 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[CTLN2 differs from classical citrullinaemia (CTLN1, OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs 18-21).]. 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:10369257 ; prov:wasDerivedFrom dgn-void:BEFREE ; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:10:45+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" . }