http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_head
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://identifiers.org/ncbigene/1056
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/C0008384
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/DGN9617ddd3bd18e9fd37f5cb7c5e61d139
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1056
http://rdf.disgenet.org/resource/gda/DGN9617ddd3bd18e9fd37f5cb7c5e61d139
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0008384
http://rdf.disgenet.org/resource/gda/DGN9617ddd3bd18e9fd37f5cb7c5e61d139
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://purl.org/dc/terms/description
[By integrating observations from Mendelian and population genetics along with directed clinical phenotyping, we diagnosed clinically unapparent cholesterol ester storage disease in the affected individuals from this kindred and addressed an outstanding question about risk of cardiovascular disease in LIPA E8SJM heterozygous carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24072694
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/dc/terms/created
2015-08-25T14:40:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP310111.RAWVTarJgZYmnyy5jH97WBvFkRSmxiMFtpIkew9YbePrE
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