@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg
> .
@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:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_head
{
this:
np:hasAssertion
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_assertion
;
np:hasProvenance
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_assertion
a
np:Assertion
.
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_provenance
a
np:Provenance
.
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_assertion
{
miriam-gene:338
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGN829afe7075434f98073c18be9c0e6f46
sio:SIO_000628
miriam-gene:338
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_provenance
{
dgn-np:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_assertion
dcterms:description
"[Mutation testing of the LDLR gene, plus select regions in APOB and PCSK9, was performed in the first 343 patients considered to be phenotypic index cases of FH and classified on the basis of the Dutch Lipid Clinic Network Criteria (DLCNC) score as possible, probable, or definite FH.]. 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:22883975
;
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:NP1004351.RAQEjwOu3cnZ229xY4MPC5-QKnDADFn20aBbX-ru2jGPg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:21+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" .
}