http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_head http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_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/DGNcb181a8546cae4ed219e25ad128788bb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/resource/gda/DGNcb181a8546cae4ed219e25ad128788bb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020445 http://rdf.disgenet.org/resource/gda/DGNcb181a8546cae4ed219e25ad128788bb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion http://purl.org/dc/terms/description [Sixteen of 17 apparently unrelated individuals heterozygous for FH E80K also were heterozygous for an identical size (239 nucleotide) allele, of polymorphic microsatellite D19S394, located approximately 250 kb away from the LDLR gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_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/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9547893 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_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/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/dc/terms/created 2016-05-13T12:52:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM 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