http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#head
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#assertion
http://rdf.disgenet.org/resource/gda/DGNdbb707722a1e0e0212d97d6674325eae
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3136
http://rdf.disgenet.org/resource/gda/DGNdbb707722a1e0e0212d97d6674325eae
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0025268
http://rdf.disgenet.org/resource/gda/DGNdbb707722a1e0e0212d97d6674325eae
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#assertion
http://purl.org/dc/terms/description
[Here, we report the successful application of the TDI assay to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the human leukocyte antigen H (HLA-H) gene, and the receptor tyrosin kinase (RET) protooncogene that are associated with cystic fibrosis, hemochromatosis, and multiple endocrine neoplasia, type 2, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#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/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9380706
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#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/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/dc/terms/created
2017-10-17T13:13:25+02:00
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP508551.RAb4p6pwvHnoG59M61lI_AByEKucXQwOG2fFKe8JfStfQ
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