http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_head http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_provenance http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://identifiers.org/ncbigene/10083 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/C0339789 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/DGNae119e75c0e2bdb81abbb9b7c0667cd5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10083 http://rdf.disgenet.org/resource/gda/DGNae119e75c0e2bdb81abbb9b7c0667cd5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339789 http://rdf.disgenet.org/resource/gda/DGNae119e75c0e2bdb81abbb9b7c0667cd5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_provenance http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://purl.org/dc/terms/description [While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness), audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_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/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23251578 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_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/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/dc/terms/created 2015-08-25T14:46:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP836237.RA4CeG-yFGmhB2FwNajuB_KVeCX8ZaVKn2q4t-dV8CbDI 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