http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#head http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#assertion http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#provenance http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#assertion http://rdf.disgenet.org/resource/gda/DGN5d89ec9ad618ef135163275bb2d526f0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2767 http://rdf.disgenet.org/resource/gda/DGN5d89ec9ad618ef135163275bb2d526f0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221002 http://rdf.disgenet.org/resource/gda/DGN5d89ec9ad618ef135163275bb2d526f0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#provenance http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#assertion http://purl.org/dc/terms/description [We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#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/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/27913609 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#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/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/dc/terms/created 2017-10-17T13:13:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP448305.RATLUTbpnEqAq1Z3WlEylE42rhYUHfIQPJGwn3D2XsFfY 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