http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_head http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_assertion http://identifiers.org/ncbigene/545 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/C0567439 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#DGN7fd0e52a88d866361aad510f1cafcf4a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/545 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7fd0e52a88d866361aad510f1cafcf4a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0567439 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7fd0e52a88d866361aad510f1cafcf4a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_assertion http://purl.org/dc/terms/description [This is the first human genetic syndrome associated with increased chromosome instability at fragile sites following replication stress, and these findings may be related to the phenotypic findings in patients with SCKL1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_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#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15309689 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_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#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_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#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/dc/terms/created 2014-10-02T12:41:33+02:00 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP936060.RApS7HSa_bY18apnpuQ4mE8BEQ9kPUCEA8gTje_P1aCmI 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