http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_head http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://identifiers.org/ncbigene/540 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/C0019202 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/DGN73b301255dd50c77d7052facc2a1e031 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/540 http://rdf.disgenet.org/resource/gda/DGN73b301255dd50c77d7052facc2a1e031 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019202 http://rdf.disgenet.org/resource/gda/DGN73b301255dd50c77d7052facc2a1e031 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://purl.org/dc/terms/description [The results produced in this study strongly suggest that DNA mutations residing in the consensus sequence of WD gene splice sites result in the WD phenotype by interfering with the production of the normal WD protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_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/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12325021 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_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/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/dc/terms/created 2016-05-13T12:41:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec 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