http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_head http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_assertion http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_provenance http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_assertion http://identifiers.org/ncbigene/22995 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/C0265202 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#DGN968153a799c5ae6ee513783ef144322b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/22995 http://rdf.disgenet.org/gene-disease-association.ttl#DGN968153a799c5ae6ee513783ef144322b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265202 http://rdf.disgenet.org/gene-disease-association.ttl#DGN968153a799c5ae6ee513783ef144322b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_provenance http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_assertion http://purl.org/dc/terms/description [Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_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#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21131973 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_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#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_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#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/dc/terms/created 2014-10-02T12:40:23+02:00 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP822062.RATq9iWGiZgFOCFoZhBI_cuJ3sums3V-cdlC_b56zfA34 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