@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:DGN746f6d035a52169521e0409422f61882 sio:SIO_000628 miriam-gene:1080 , lld:C0010674 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[The 5T sequence has not been included in the American College of Medical Genetics (ACMG) CFTR mutation panel recommended for screening pregnant women for an increased fetal risk of cystic fibrosis (CF; MIM 219700) because finding this allele would raise concern for possible CFTR gene-related symptoms in many fetuses, even though only a fraction inheriting 5T and another major CFTR mutation would develop CF-like symptoms.]. 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:17394391 ; 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 "2017-10-17T13:11:32+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" . }