http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_head http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_provenance http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://identifiers.org/ncbigene/2175 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/C0018939 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/DGN1905757a9c98633e7ca815776fb09923 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2175 http://rdf.disgenet.org/resource/gda/DGN1905757a9c98633e7ca815776fb09923 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018939 http://rdf.disgenet.org/resource/gda/DGN1905757a9c98633e7ca815776fb09923 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_provenance http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://purl.org/dc/terms/description [This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21273304 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/dc/terms/created 2015-08-25T14:41:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393430.RArP9FOQbIwk4vvdycSlYLY4asxxZydFcYqrD2hmRoAnA http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0