http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_head http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://identifiers.org/ncbigene/5979 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/C0238463 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#DGNee71252ec95fe71a190950e2291ba3d5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5979 http://rdf.disgenet.org/gene-disease-association.ttl#DGNee71252ec95fe71a190950e2291ba3d5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238463 http://rdf.disgenet.org/gene-disease-association.ttl#DGNee71252ec95fe71a190950e2291ba3d5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://purl.org/dc/terms/description [ We report a full clinical and molecular analysis of a large FMTC kindred with an uncommon RET mutation. In two family members, phenotype and genotype were not concordant, representing the first evidence of FMTC phenocopies. Furthermore, the association of familial forms of medullary and papillary thyroid cancers has been found in 30% of patients undergoing thyroidectomy for MTC. In these situations, genetic analyses excluded the possible germline involvement of RET. Though FMTC phenocopies are likely to represent an exceptional finding, such a possibility should be taken into account in the genetic counselling for MEN 2 syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_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#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11849247 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_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#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 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#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/dc/terms/created 2014-10-02T12:32:24+02:00 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY 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