http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_head http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://identifiers.org/ncbigene/7038 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/C0020676 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/resource/gda/DGNfa472f463d8ffad00d3a7fd630c9f14c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7038 http://rdf.disgenet.org/resource/gda/DGNfa472f463d8ffad00d3a7fd630c9f14c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020676 http://rdf.disgenet.org/resource/gda/DGNfa472f463d8ffad00d3a7fd630c9f14c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_provenance http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://purl.org/dc/terms/description [Two novel mutations have been detected, and we show that TG mutation p.A2215D promotes the retention of TG within the endoplasmic reticulum and reduces TG synthesis and secretion, causing mild hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19509106 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/dc/terms/created 2015-08-25T14:45:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP730814.RAWsguqBECvXQusCYpGqRypeqboSLm-bMcubh1TRHNksc http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0