http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_head http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_assertion http://identifiers.org/ncbigene/860 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/C0559260 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#DGNba2a5ef89a8de3ccec471e022b8e2e9d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/860 http://rdf.disgenet.org/gene-disease-association.ttl#DGNba2a5ef89a8de3ccec471e022b8e2e9d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0559260 http://rdf.disgenet.org/gene-disease-association.ttl#DGNba2a5ef89a8de3ccec471e022b8e2e9d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_assertion http://purl.org/dc/terms/description [In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_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#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10521292 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_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#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_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#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/dc/terms/created 2014-10-02T12:34:15+02:00 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP241730.RAs6Enx__1p6GEAQKuZBtO0MgFoyIjGC0iikzRICwslxQ 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