http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_head http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://identifiers.org/ncbigene/1678 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/C0155320 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/DGN09f8541adf0477563981270ae6692947 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1678 http://rdf.disgenet.org/resource/gda/DGN09f8541adf0477563981270ae6692947 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0155320 http://rdf.disgenet.org/resource/gda/DGN09f8541adf0477563981270ae6692947 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://purl.org/dc/terms/description [More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_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/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8841189 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_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/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/dc/terms/created 2015-08-25T14:41:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo 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