@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_head
{
this:
np:hasAssertion
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion
;
np:hasProvenance
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance
;
np:hasPublicationInfo
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion
a
np:Assertion
.
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance
a
np:Provenance
.
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0745103
a
ncit:C7057
.
dgn-gda:DGN0dce81ead57b2d1f7666bea68223c566
sio:SIO_000628
miriam-gene:3949
,
lld:C0745103
;
a
sio:SIO_001122
.
}
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance
{
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion
dcterms:description
"[In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10090484
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}