@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:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_head { this: np:hasAssertion dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_assertion; np:hasProvenance dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_provenance; np:hasPublicationInfo dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_publicationInfo; a np:Nanopublication . dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_assertion a np:Assertion . dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_provenance a np:Provenance . dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_publicationInfo a np:PublicationInfo . } dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_assertion { miriam-gene:1291 a ncit:C16612 . lld:C0013080 a ncit:C7057 . dgn-gda:DGN15cd352fb50abe47aaa900dc456f4c99 sio:SIO_000628 miriam-gene:1291, lld:C0013080; a sio:SIO_001121 . } dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_provenance { dgn-np:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_assertion dcterms:description "[Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital heart defects and 21 without) and 37 unrelated volunteers.]. 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:7909528; 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:NP828158.RAdDy1KEelxk_anCcNm8mJbBKY0QcE9QC_Hy6bSM0b4b0130_publicationInfo { this: dcterms:created "2014-10-02T12:40:27+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" . }