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http://rdf.disgenet.org/nanopublications.trig#NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_provenance
a
np:Provenance
.
dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion
{
miriam-gene:1391
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGN188f95ae574518cb4223015a8dcbdf91
sio:SIO_000628
miriam-gene:1391
,
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;
a
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.
}
dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_provenance
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dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_assertion
dcterms:description
"[In view of the broad clinical spectrum and the likely genetic heterogeneity of both disorders, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as several features of CHARGE association have been reported in rare patients with 22q11.2 deletion association phenotypes.]. 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:9429139
;
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 .
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dgn-np:NP663346.RAa0UKL_y6mMJitzQsx0tuwunpuracmIORg7n1tO70MF4130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
<
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> , <
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> , <
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> , <
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> , <
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> ;
pav:createdBy
<
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> ;
pav:version
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