http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_head http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_provenance http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://identifiers.org/ncbigene/2706 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/C0262435 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/DGN4a01f6e8b3b81282ae038291c4863ace http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2706 http://rdf.disgenet.org/resource/gda/DGN4a01f6e8b3b81282ae038291c4863ace http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0262435 http://rdf.disgenet.org/resource/gda/DGN4a01f6e8b3b81282ae038291c4863ace http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_provenance http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://purl.org/dc/terms/description [Next, two protocols are presented: (1) a full gene-sequencing assay to identify mutations in the GJB2 gene (encoding connexin 26), the most common cause of congenital hearing loss, and (2) an assay to detect the presence of the GJB6-D13S1830 deletion, a 342-kb deletion that causes hearing loss in homozygosity or in combination with a single GJB2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_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/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22241658 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_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/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/dc/terms/created 2015-08-25T14:41:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426424.RAlVGR0SD1ITeVpYvpgh3uXyH4HIolVVXF6_ACW9TObhM 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