http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#head http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#provenance http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://rdf.disgenet.org/resource/gda/DGN8d30e30fa5a16e7ae038865db1b2a130 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/resource/gda/DGN8d30e30fa5a16e7ae038865db1b2a130 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0745103 http://rdf.disgenet.org/resource/gda/DGN8d30e30fa5a16e7ae038865db1b2a130 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#provenance http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://purl.org/dc/terms/description [To validate the method we have measured (1) the range of normal LDLR allele transcript levels, and (2) the transcript levels in patients heterozygous for different types of mutant LDLR alleles associated with FH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8844210 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/dc/terms/created 2017-10-17T13:14:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP640305.RAaVfWLQhfLfWZicTMR3gQ93-8mta0-52WTOZclC_f1nc http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0