@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_head
{
this:
np:hasAssertion
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion
;
np:hasProvenance
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance
;
np:hasPublicationInfo
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion
a
np:Assertion
.
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance
a
np:Provenance
.
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion
{
miriam-gene:6899
a
ncit:C16612
.
lld:C0220704
a
ncit:C7057
.
dgn-gda:DGN0b1bb6fee58e910c57617e26b6be35c0
sio:SIO_000628
miriam-gene:6899
,
lld:C0220704
;
a
sio:SIO_001121
.
}
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_provenance
{
dgn-np:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_assertion
dcterms:description
"[Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome.]. 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:17273972
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP592065.RAtbQOS8DsW8E0BQ2QtGZBeZTyqt_vT4RqtJmSKVY1Zqg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:14+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}