http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_head http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://identifiers.org/ncbigene/3872 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/C0265334 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/gene-disease-association.ttl#DGN61a8f6fecab7c74d50072d784b761f7e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3872 http://rdf.disgenet.org/gene-disease-association.ttl#DGN61a8f6fecab7c74d50072d784b761f7e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265334 http://rdf.disgenet.org/gene-disease-association.ttl#DGN61a8f6fecab7c74d50072d784b761f7e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://purl.org/dc/terms/description [Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17719747 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#lhgdn-20090331 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#lhgdn-20090331 http://purl.org/pav/2.0/importedOn 2009-03-31 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/dc/terms/created 2014-10-02T12:33:20+02:00 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0