http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#head http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#assertion http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#provenance http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#assertion http://rdf.disgenet.org/resource/gda/DGN09f47d2b2b5aa93823d19b6bc176107e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6010 http://rdf.disgenet.org/resource/gda/DGN09f47d2b2b5aa93823d19b6bc176107e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010674 http://rdf.disgenet.org/resource/gda/DGN09f47d2b2b5aa93823d19b6bc176107e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#provenance http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#assertion http://purl.org/dc/terms/description [The technique is illustrated here by the three base-pair deletion responsible for most cases of cystic fibrosis and by detection of the point mutation in the rhodopsin gene that has been associated with some cases of autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#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/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1674012 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#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/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/dc/terms/created 2017-10-17T13:15:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP908315.RAw8gO7K5KpRAFI0nKG8H7MXd9IBpcLAg-nNgVO_MPCBw 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