http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#head
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#assertion
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#provenance
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#assertion
http://rdf.disgenet.org/resource/gda/DGN00f1b09b5b596bf52b22f693e1e45123
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4000
http://rdf.disgenet.org/resource/gda/DGN00f1b09b5b596bf52b22f693e1e45123
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0242339
http://rdf.disgenet.org/resource/gda/DGN00f1b09b5b596bf52b22f693e1e45123
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#provenance
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#assertion
http://purl.org/dc/terms/description
[Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#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/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11136544
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#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/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/dc/terms/created
2017-10-17T13:14:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP649091.RAN-SwOYaIse6Mu4AcbLGWYb4_3s1svr8dWCyFytboxnY
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