http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_head http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_provenance http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_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/C0745103 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/DGN0dce81ead57b2d1f7666bea68223c566 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/resource/gda/DGN0dce81ead57b2d1f7666bea68223c566 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0745103 http://rdf.disgenet.org/resource/gda/DGN0dce81ead57b2d1f7666bea68223c566 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_provenance http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_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/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10090484 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/dc/terms/created 2015-08-25T14:37:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP794.RAcyXC8NZqqSdHAjNwo0CJaM6yI1vJokZRjg4lZFAw0sU 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