@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_head
{
this:
np:hasAssertion
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_assertion
;
np:hasProvenance
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_provenance
;
np:hasPublicationInfo
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_assertion
a
np:Assertion
.
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_provenance
a
np:Provenance
.
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0010054
a
ncit:C7057
.
dgn-gda:DGNa7bb7637c0c99eaf6a1f41f451eb7138
sio:SIO_000628
miriam-gene:3949
,
lld:C0010054
;
a
sio:SIO_001121
.
}
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_provenance
{
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_assertion
dcterms:description
"[A 3.5 y-old girl carrying a severe mutation of the LDL-receptor gene known as FH Pavia, affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprotein apheresis (LDL-a).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:11440106
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP322969.RA2O2OzEQFgIdmFOPjNuTd4eNUYR5oqSW7QXvhDiIEIg4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:12+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}