@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI
> .
@prefix rdfs: <
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
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_assertion
;
np:hasProvenance
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_provenance
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np:hasPublicationInfo
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_assertion
a
np:Assertion
.
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_provenance
a
np:Provenance
.
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_assertion
{
miriam-gene:9569
a
ncit:C16612
.
lld:C0004930
a
ncit:C7057
.
dgn-gda:DGNf9481b456c0f445a42c3165b7a2b3277
sio:SIO_000628
miriam-gene:9569
,
lld:C0004930
;
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.
}
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_provenance
{
dgn-np:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_assertion
dcterms:description
"[These data provide new mechanistic insight into the clinical genetic findings in WBS patients and indicate that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany this disease.]. 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:22198572
;
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:NP365305.RAg0bBJooXrI1bPRtR9p9HCUa6rwkeVG7JhOTvf1vAWYI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:34+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
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
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> , <
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
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"v2.1.0" .
}