http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#head http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#provenance http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://rdf.disgenet.org/resource/gda/DGN5fc00822012d6b2c0395329e6bdd4ce9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9381 http://rdf.disgenet.org/resource/gda/DGN5fc00822012d6b2c0395329e6bdd4ce9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018784 http://rdf.disgenet.org/resource/gda/DGN5fc00822012d6b2c0395329e6bdd4ce9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#provenance http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://purl.org/dc/terms/description [The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first d]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#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/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14635104 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/GAD http://purl.org/pav/importedOn 2017-02-21 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/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/dc/terms/created 2017-10-17T13:17:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1184194.RA1PTsAwUhz8PODHa3vOS9QHB4G57P2hZKUd5fC8oyByU 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