http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_head http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://identifiers.org/ncbigene/1351 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/C0009782 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#DGN6637d4b88a1e6cff650db08745138d64 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1351 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6637d4b88a1e6cff650db08745138d64 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009782 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6637d4b88a1e6cff650db08745138d64 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://purl.org/dc/terms/description [We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable.We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_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#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22739343 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_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#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 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#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/dc/terms/created 2014-10-02T12:38:33+02:00 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP652582.RAF4JccT6mKsB4480r60oo2ErHWGW8Ve3Ecs3f7kFVbI8 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