http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#head http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#provenance http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://rdf.disgenet.org/resource/gda/DGNf81b7939c83c1b84fa8ade3b5fda874d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1080 http://rdf.disgenet.org/resource/gda/DGNf81b7939c83c1b84fa8ade3b5fda874d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010674 http://rdf.disgenet.org/resource/gda/DGNf81b7939c83c1b84fa8ade3b5fda874d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#provenance http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://purl.org/dc/terms/description [These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25431289 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/dc/terms/created 2017-10-17T13:11:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP211138.RANPDubxTdTADBZDHiKCdmMaehKocKQUiifKYLNQnc-bc http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0