@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:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_head { this: np:hasAssertion dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion; np:hasProvenance dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance; np:hasPublicationInfo dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo; a np:Nanopublication . dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion a np:Assertion . dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance a np:Provenance . dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo a np:PublicationInfo . } dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion { miriam-gene:1827 a ncit:C16612 . lld:C0018798 a ncit:C7057 . dgn-gda:DGN3cfe5df6b43c1e5b2df8dfda3e16ade7 sio:SIO_000628 miriam-gene:1827, lld:C0018798; a sio:SIO_001121 . } dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance { dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion dcterms:description "[The Down syndrome critical region 1 (DSCR1) gene is present in the region of human chromosome 21 and the syntenic region of mouse chromosome 16, trisomy of which is associated with congenital heart defects observed in Down syndrome.]. 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:14738882; 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:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo { this: dcterms:created "2016-05-13T12:44:59+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" . }