http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_head http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_assertion http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_provenance http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_assertion http://identifiers.org/ncbigene/6567 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/C0026827 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#DGNc622dd7a2dfae80b0f55dae5b4e4e135 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6567 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc622dd7a2dfae80b0f55dae5b4e4e135 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026827 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc622dd7a2dfae80b0f55dae5b4e4e135 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_provenance http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_assertion http://purl.org/dc/terms/description [Our results show the difficulty of distinguishing AHDS from patients with X-linked intellectual disability solely on the basis of clinical features and biochemical tests, and we advise screening for MCT8 mutations in either young or older patients with severe intellectual disability, axial hypotonia/dystonia, poor head control, spastic paraplegia, and athetoid movements even when they have normal thyroid hormone profiles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_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#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23419639 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_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#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_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#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/dc/terms/created 2014-10-02T12:38:02+02:00 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP603810.RA2PVjobZjqxCVBc3my7o2M9LIuojqwm-voP42wUdIJ10 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