@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU
> .
@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:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_head
{
this:
np:hasAssertion
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_assertion
;
np:hasProvenance
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_provenance
;
np:hasPublicationInfo
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_assertion
a
np:Assertion
.
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_provenance
a
np:Provenance
.
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_assertion
{
miriam-gene:1066
a
ncit:C16612
.
lld:C0008384
a
ncit:C7057
.
dgn-gda:DGN72b66d6438bb6f73e34131980b1a5316
sio:SIO_000628
miriam-gene:1066
,
lld:C0008384
;
a
sio:SIO_001121
.
}
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_provenance
{
dgn-np:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_assertion
dcterms:description
"[The objectives of our studies were not only to directly compare and contrast the clinical features of Wolman disease and cholesteryl ester storage disease but also to determine the reasons(s) for the varied phenotype expression of acid cholesteryl ester hydrolase deficiency.]. 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:6097111
;
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:NP354126.RAz5tUJ8Wr92puHe0OdgSxhtmoSoOcYjST6tXd0L8XieU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:28+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" .
}