http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_head http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_provenance http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://identifiers.org/ncbigene/65217 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/C1865885 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/DGNb3c27cf03120b22aed13bc97b3a16208 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/65217 http://rdf.disgenet.org/resource/gda/DGNb3c27cf03120b22aed13bc97b3a16208 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1865885 http://rdf.disgenet.org/resource/gda/DGNb3c27cf03120b22aed13bc97b3a16208 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_provenance http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://purl.org/dc/terms/description [The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_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/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19107147 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_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/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/dc/terms/created 2015-08-25T14:47:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP941475.RAfFZ5shlbnxDmD7UktIMeQNqhpFC9-SnhkN3y_SOXkls 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