http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_head http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://identifiers.org/ncbigene/2707 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/C0432330 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/DGNf99b2fb4c0e0356684758b3aeb22d761 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2707 http://rdf.disgenet.org/resource/gda/DGNf99b2fb4c0e0356684758b3aeb22d761 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432330 http://rdf.disgenet.org/resource/gda/DGNf99b2fb4c0e0356684758b3aeb22d761 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://purl.org/dc/terms/description [Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21564177 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/dc/terms/created 2016-05-13T12:48:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893497.RAfSkxtsnrr98s5YRyr0LkoVn0jnavG2KP4iTJn96a86Q http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0