http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#head http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#provenance http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://rdf.disgenet.org/resource/gda/DGNd6e143de26ac89557fc06801d7ba9954 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3857 http://rdf.disgenet.org/resource/gda/DGNd6e143de26ac89557fc06801d7ba9954 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1721006 http://rdf.disgenet.org/resource/gda/DGNd6e143de26ac89557fc06801d7ba9954 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#provenance http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://purl.org/dc/terms/description [The phenotype of this case is similar to EPPK caused by 1A domain mutations, demonstrating that mutations in either of the helix boundary motif sequences of K9 are detrimental to keratin function and keratinocyte structure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10233272 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/dc/terms/created 2017-10-17T13:14:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631165.RAbiB9NF3K8lmQ95VGHyD_43LIVNg-03V4LskmE7WzMVo http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0