http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_head http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_provenance http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://identifiers.org/ncbigene/1476 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/C0751785 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/DGNcb2458e6a4f077b0739598d504ba50ff http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1476 http://rdf.disgenet.org/resource/gda/DGNcb2458e6a4f077b0739598d504ba50ff http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751785 http://rdf.disgenet.org/resource/gda/DGNcb2458e6a4f077b0739598d504ba50ff http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_provenance http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://purl.org/dc/terms/description [In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_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/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19170735 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_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/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/dc/terms/created 2015-08-25T14:40:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP333936.RAlTrcyyv2dQF9iTtyqqulJCfoarV_02MeBULpYOl6Tdg 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