http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_head http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_assertion http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_provenance http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_assertion http://identifiers.org/ncbigene/64699 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/C0751778 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/DGN2840e6f7fdd8b9bff8fbcd747c04670c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/64699 http://rdf.disgenet.org/resource/gda/DGN2840e6f7fdd8b9bff8fbcd747c04670c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751778 http://rdf.disgenet.org/resource/gda/DGN2840e6f7fdd8b9bff8fbcd747c04670c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_provenance http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_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/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_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/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19170735 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_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/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/dc/terms/created 2016-05-13T12:47:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP716636.RAvZ2JvBVPcLWOzKdSqmrGw4JMGVmeCmabMuKTRQcLHAU 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