@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:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_head { this: np:hasAssertion dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion; np:hasProvenance dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_provenance; np:hasPublicationInfo dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_publicationInfo; a np:Nanopublication . dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion a np:Assertion . dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_provenance a np:Provenance . dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion { miriam-gene:3712 a ncit:C16612 . lld:C0152095 a ncit:C7057 . dgn-gda:DGN3713612dab16b9990e92fbff065f3016 sio:SIO_000628 miriam-gene:3712, lld:C0152095; a sio:SIO_001121 . } dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_provenance { dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion dcterms:description "[Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome microdeletions, as well as the trisomy 13, 18 and 21, and (2) KaryoLite BoBs (RUO) which can detect aneuploidy in all chromosomes by quantifying proximal and terminal regions of each chromosomal arm.]. 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:25239751; 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:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_publicationInfo { this: dcterms:created "2016-05-13T12:51:00+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" . }