@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_head
{
this:
np:hasAssertion
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_assertion
;
np:hasProvenance
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_provenance
;
np:hasPublicationInfo
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_assertion
a
np:Assertion
.
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_provenance
a
np:Provenance
.
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_assertion
{
miriam-gene:3930
a
ncit:C16612
.
lld:C0020757
a
ncit:C7057
.
dgn-gda:DGN03ab11a0753f3c7fae18b5a49dcd76c3
sio:SIO_000628
miriam-gene:3930
,
lld:C0020757
;
a
sio:SIO_001121
.
}
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_provenance
{
dgn-np:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_assertion
dcterms:description
"[Our data support the conclusions that LBR and DHCR14 provide substantial enzymatic redundancy with respect to cholesterol synthesis and that HEM dysplasia and ichthyosis are laminopathies rather than inborn errors of cholesterol synthesis.]. 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:17403717
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP496168.RAjDDhkDTRULpHYJK2tJaqwsMwQXaOccn3vhxLaHogdCM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:56+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" .
}