http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#head http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#assertion http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#provenance http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#assertion http://rdf.disgenet.org/resource/gda/DGNe64c40ed61fd4dd6d0bbcd400e87e863 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/resource/gda/DGNe64c40ed61fd4dd6d0bbcd400e87e863 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010068 http://rdf.disgenet.org/resource/gda/DGNe64c40ed61fd4dd6d0bbcd400e87e863 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#provenance http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#assertion http://purl.org/dc/terms/description [Homozygotes and compound heterozygotes (i.e., those who carry two different FH genes) are very rare (one in 1,000,000) have severe hypercholesterolemia with xanthomas, and develop coronary heart disease early in life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#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/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2563220 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#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/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/dc/terms/created 2017-10-17T13:14:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP639949.RAgCXY6pgG5kERiwmcOsSWoISuLZ53bdBZARxvfSi_qm0 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