http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_head http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_assertion http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_provenance http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_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/C3711374 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/DGN7eb6f16f3570051c750ac8e3765a40a0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/64699 http://rdf.disgenet.org/resource/gda/DGN7eb6f16f3570051c750ac8e3765a40a0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3711374 http://rdf.disgenet.org/resource/gda/DGN7eb6f16f3570051c750ac8e3765a40a0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_provenance http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_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/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_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/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19170735 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_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/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/dc/terms/created 2015-08-25T14:47:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP939742.RAZY4iN5Uu2LnU5CzthWp9_2tF-gISOVa4ROVQuwQaSAE 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