@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0
> .
@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:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_head
{
this:
np:hasAssertion
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_assertion
;
np:hasProvenance
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_provenance
;
np:hasPublicationInfo
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_assertion
a
np:Assertion
.
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_provenance
a
np:Provenance
.
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_assertion
{
miriam-gene:338
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGNc0b5c3c127e051ab4c1fafd6ebd2e1d0
sio:SIO_000628
miriam-gene:338
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_provenance
{
dgn-np:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_assertion
dcterms:description
"[Two groups of UK patients with a clinical diagnosis of familial hypercholesterolaemia (FH) and where no mutation had been identified in LDLR or APOB (14 children and 42 adults) were screened for the presence of major LDLR rearrangements by this assay.]. 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:10745045
;
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:NP279808.RAAOPEgkEfwjFxKacjIJ2Lh3cEnxpTLv78YW9wX8v9mr0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:52+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" .
}