http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#head http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#assertion http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#provenance http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#assertion http://rdf.disgenet.org/resource/gda/DGN9645959ef64884a5f9a97b200e4ab277 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7253 http://rdf.disgenet.org/resource/gda/DGN9645959ef64884a5f9a97b200e4ab277 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1563716 http://rdf.disgenet.org/resource/gda/DGN9645959ef64884a5f9a97b200e4ab277 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#provenance http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#assertion http://purl.org/dc/terms/description [Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#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/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/27637299 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#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/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/dc/terms/created 2017-10-17T13:17:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1080812.RAvB-v2FSxbFybGVS1bjzyCHlrxh8ytlFWT83m-heQhNk 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