http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_head http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_provenance http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_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/C2676137 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/DGNf992044b509cd4cb08ecbb8f223bb30f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6223 http://rdf.disgenet.org/resource/gda/DGNf992044b509cd4cb08ecbb8f223bb30f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2676137 http://rdf.disgenet.org/resource/gda/DGNf992044b509cd4cb08ecbb8f223bb30f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_provenance http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_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/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10590074 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://purl.org/pav/importedOn 2016-01-25 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/dc/terms/created 2016-05-13T12:41:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP528.RAhMDpYQTzw0EowRmT_c4vLhTGUJfpEN3zWcKh7G7rrHY 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