http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_head http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://identifiers.org/ncbigene/6223 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/C1260899 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#DGN559101969e879af6364e4d09832eac09 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6223 http://rdf.disgenet.org/gene-disease-association.ttl#DGN559101969e879af6364e4d09832eac09 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1260899 http://rdf.disgenet.org/gene-disease-association.ttl#DGN559101969e879af6364e4d09832eac09 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://purl.org/dc/terms/description [To determine the prevalence of mutations in this gene in DBA and to begin to define the molecular basis for the observed variable clinical phenotype of this disorder, the genomic sequence of the 6 exons and the 5' untranslated region of the RPS19 gene was directly assessed in DBA index cases from 172 new families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10590074 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/dc/terms/created 2014-10-02T12:32:00+02:00 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M 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