http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_head http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_assertion http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_provenance http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_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/resource/gda/DGN6637d4b88a1e6cff650db08745138d64 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1351 http://rdf.disgenet.org/resource/gda/DGN6637d4b88a1e6cff650db08745138d64 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009782 http://rdf.disgenet.org/resource/gda/DGN6637d4b88a1e6cff650db08745138d64 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_provenance http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_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/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_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/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22739343 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_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/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/dc/terms/created 2016-05-13T12:49:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP993576.RAsb9BYpsVMlbpPALOB50AxLbqwoQe7ekWhHo9chK9QwY 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