http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_head http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_assertion http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_provenance http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_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/C1563719 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/DGN11ebf2aace2791523a09a5e1e02129a6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10381 http://rdf.disgenet.org/resource/gda/DGN11ebf2aace2791523a09a5e1e02129a6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1563719 http://rdf.disgenet.org/resource/gda/DGN11ebf2aace2791523a09a5e1e02129a6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_provenance http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_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/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_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/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23378218 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_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/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/dc/terms/created 2015-08-25T14:46:11+02:00 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841750.RAHjnNngrAcEhtFPXwPunUU6G0bSpf-etz-MU78-0FoPA 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