http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#head
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#provenance
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
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/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#provenance
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#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/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10090484
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/dc/terms/created
2017-10-17T13:14:16+02:00
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP640658.RAHg5d2pgWksFvtiEeD3FtkD7bduX2S8YXaUOui6ikqAg
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