http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_head http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_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/C0010308 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#DGNbac366f43183c49586519f4a5dc791c8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7253 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbac366f43183c49586519f4a5dc791c8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010308 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbac366f43183c49586519f4a5dc791c8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion http://purl.org/dc/terms/description [The screening of TSHR gene mutations by SSCP in a well defined cohort of 100 children with congenital hypothyroidism (CH), diagnosed and followed since 1978 in the Childrens Hospital of Berlin, revealed one patient with hypoplasia of the thyroid to be positive for two compound heterozygote inactivating mutations of the TSHR gene, indicating thereby that the clinical approach to define phenotypes of interest could be helpful to understand the fundamental process of thyroid development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_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#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8981017 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_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#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_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#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/dc/terms/created 2014-10-02T12:36:27+02:00 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c 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