@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI
> .
@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:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_head
{
this:
np:hasAssertion
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_assertion
;
np:hasProvenance
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_assertion
a
np:Assertion
.
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_provenance
a
np:Provenance
.
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGN12ad043ac68826e24ce2b4051ffa91b1
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_provenance
{
dgn-np:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_assertion
dcterms:description
"[Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical practice.]. 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:9559272
;
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:NP1393718.RAxZWjcFau2y8UoTT3Ulp4VEiNm_TSjTzvg8h3ZJVbdWI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:18+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" .
}