@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk
> .
@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:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_head
{
this:
np:hasAssertion
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_assertion
;
np:hasProvenance
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_provenance
;
np:hasPublicationInfo
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_assertion
a
np:Assertion
.
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_provenance
a
np:Provenance
.
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_assertion
{
miriam-gene:9569
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN42f13667be27fcc0cc9e3aef38941745
sio:SIO_000628
miriam-gene:9569
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_provenance
{
dgn-np:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_assertion
dcterms:description
"[Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.]. 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:19568270
;
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:NP490466.RAHeDBZ_z0RzbVk6OyngvPx2kOp_RjXCnVYlVvIP7Ldnk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:53+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" .
}