@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY
> .
@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:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_head
{
this:
np:hasAssertion
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_assertion
;
np:hasProvenance
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_provenance
;
np:hasPublicationInfo
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_assertion
a
np:Assertion
.
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_provenance
a
np:Provenance
.
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_assertion
{
miriam-gene:1999
a
ncit:C16612
.
lld:C1961835
a
ncit:C7057
.
dgn-gda:DGNada46e89917d4683b3289530f0f77d91
sio:SIO_000628
miriam-gene:1999
,
lld:C1961835
;
a
sio:SIO_001121
.
}
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_provenance
{
dgn-np:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_assertion
dcterms:description
"[To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT).]. 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:20206881
;
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:NP294347.RA8jXsAdJyduwA6PDEjU5U1ADAwo1aBWHqSZg0wa8KzKY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:47+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" .
}