http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_head http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://identifiers.org/ncbigene/3858 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/C0079153 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/DGNd772036251fb684a0dce3334616a09a8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3858 http://rdf.disgenet.org/resource/gda/DGNd772036251fb684a0dce3334616a09a8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0079153 http://rdf.disgenet.org/resource/gda/DGNd772036251fb684a0dce3334616a09a8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://purl.org/dc/terms/description [The most frequent mutation that causes the autosomal dominant skin disease epidermolytic hyperkeratosis (EHK) is an arginine to histidine substitution at position 10 in the 1A segment of the rod domain of keratin 10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_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/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8648165 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_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/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/dc/terms/created 2016-05-13T12:51:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg 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