@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po
> .
@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:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_head
{
this:
np:hasAssertion
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_assertion
;
np:hasProvenance
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_provenance
;
np:hasPublicationInfo
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_assertion
a
np:Assertion
.
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_provenance
a
np:Provenance
.
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNa88cc01feea5094bb53ea1d130d2c5d3
sio:SIO_000628
miriam-gene:3342
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_provenance
{
dgn-np:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_assertion
dcterms:description
"[In severe ID, cytogenetically visible chromosomal abnormalities like trisomy 21 continue to be common, but since the introduction of array CGH, it is becoming clear that submicroscopic deletions and duplications are equally frequent, yet previously overlooked causes of ID.]. 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:18694825
;
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:NP353277.RALJl9NOgDQpSh90e2VLK11-9RrxNTDm8kSLuNWh-R7po130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:27+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" .
}