http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_head http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_assertion http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_provenance http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_assertion http://identifiers.org/ncbigene/127534 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/DGN1f0171ecbcd2720c6b4dae8eb561cf0d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/127534 http://rdf.disgenet.org/resource/gda/DGN1f0171ecbcd2720c6b4dae8eb561cf0d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432330 http://rdf.disgenet.org/resource/gda/DGN1f0171ecbcd2720c6b4dae8eb561cf0d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_provenance http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_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/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_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/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21564177 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_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/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/dc/terms/created 2016-05-13T12:48:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893498.RA2K4vYzAfW8yKdvqTNNLIK80V3iD9XwS_fvpthghMTJ0 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