http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_head http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://identifiers.org/ncbigene/7253 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1998045 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe25e95ef510b6a27fad7e591a3e0a49b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7253 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe25e95ef510b6a27fad7e591a3e0a49b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1998045 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe25e95ef510b6a27fad7e591a3e0a49b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://purl.org/dc/terms/description [A novel heterozygous TSHR point mutation causing a glutamic acid to lysine substitution at codon 575 (E575K) in the second extracellular loop was detected in the three family members with subclinical hyperthyroidism, but was absent in her one daughter with normal thyroid function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20929407 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/dc/terms/created 2014-10-02T12:34:03+02:00 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0