http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#head http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#assertion http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#provenance http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#assertion http://rdf.disgenet.org/resource/gda/DGNfd04faed9bcd13cbef121c8504a516cb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2706 http://rdf.disgenet.org/resource/gda/DGNfd04faed9bcd13cbef121c8504a516cb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339789 http://rdf.disgenet.org/resource/gda/DGNfd04faed9bcd13cbef121c8504a516cb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#provenance http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#assertion http://purl.org/dc/terms/description [The specific aims of this study are to 1) classify the etiology of congenital hearing loss in infants by doing prospective genetic evaluations of all newborns with permanent hearing loss from defined geographic areas, 2) determine the frequency of mutations in GJB2 and two common mitochondrial mutations in these populations, and 3) establish a model infrastructure linking genetic services to statewide EHDI programs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#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/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14755431 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#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/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/dc/terms/created 2017-10-17T13:13:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP443307.RAOcJ_H1t1NfQldcZh8eHfoyWyMs7XfxqdiN9ONvRLytQ 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