@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:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_head { this: np:hasAssertion dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_assertion; np:hasProvenance dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_provenance; np:hasPublicationInfo dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_publicationInfo; a np:Nanopublication . dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_assertion a np:Assertion . dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_provenance a np:Provenance . dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_publicationInfo a np:PublicationInfo . } dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0270246 a ncit:C7057 . dgn-gda:DGNc55fcf49a57bfa35af6c1a32d0ba7944 sio:SIO_000628 miriam-gene:1080, lld:C0270246; a sio:SIO_001121 . } dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_provenance { dgn-np:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_assertion dcterms:description "[Of the babies born with CF, 283 (67.4%) were detected by newborn screening alone, 61 (14.5%) had meconium ileus, 33 (7.9%) had a family history of CF, nine (2.1%) were diagnosed antenatally, and 34 (8.1%) were missed by screening (17 missed because IRT level was < 99th percentile, two with repeat IRT level not elevated, 14 without a screened CFTR mutation, and one with missing data).]. 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:22256939; 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:NP556753.RAkGFVUspEQmL1GzhxqAYZ8EgF3q6xyOvjCNzU2A5_NUI130_publicationInfo { this: dcterms:created "2014-10-02T12:37:35+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" . }