http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_head http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://identifiers.org/ncbigene/3949 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/C0020445 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/DGNe7974a3ccb3e89d936e69d6773055c13 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/resource/gda/DGNe7974a3ccb3e89d936e69d6773055c13 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020445 http://rdf.disgenet.org/resource/gda/DGNe7974a3ccb3e89d936e69d6773055c13 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://purl.org/dc/terms/description [In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10090484 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/dc/terms/created 2016-05-13T12:43:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw 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