http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#head http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#provenance http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://rdf.disgenet.org/resource/gda/DGN4bba90373c097b6b259daa8f6daba7ff http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10381 http://rdf.disgenet.org/resource/gda/DGN4bba90373c097b6b259daa8f6daba7ff http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0042928 http://rdf.disgenet.org/resource/gda/DGN4bba90373c097b6b259daa8f6daba7ff http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#provenance http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#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/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23378218 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/dc/terms/created 2017-10-17T13:17:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214183.RAS23NWBRKMc_2u9E0Dq71wC1ci7VYCK-s0g1q2k6dND8 http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0