http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_head http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://identifiers.org/ncbigene/10381 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/C0162809 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/DGN91ccf815517396dbd4c98f6db4b0053d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10381 http://rdf.disgenet.org/resource/gda/DGN91ccf815517396dbd4c98f6db4b0053d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162809 http://rdf.disgenet.org/resource/gda/DGN91ccf815517396dbd4c98f6db4b0053d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://purl.org/dc/terms/description [We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23378218 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/dc/terms/created 2016-05-13T12:49:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1049798.RAycgCRpM1WLbgiweaMz_Eza0Qx3rQkZtjeHV2z6jRvoY http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0