http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_head http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_assertion http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_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/C0271682 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/DGNbeda0f03648b51a8ad8b04aef3295b7a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10381 http://rdf.disgenet.org/resource/gda/DGNbeda0f03648b51a8ad8b04aef3295b7a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271682 http://rdf.disgenet.org/resource/gda/DGNbeda0f03648b51a8ad8b04aef3295b7a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_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/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_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/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23378218 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_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/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/dc/terms/created 2015-08-25T14:46:11+02:00 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841674.RABLMJT_Oxkucg6kku2M-Qti2YYlyuTggF2_IlbbNKCqM 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