@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8
> .
@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:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_head
{
this:
np:hasAssertion
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_assertion
;
np:hasProvenance
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_provenance
;
np:hasPublicationInfo
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_assertion
a
np:Assertion
.
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_provenance
a
np:Provenance
.
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGNd9a5ed27388a379883c3bc85241df04c
sio:SIO_000628
miriam-gene:3342
,
lld:C0012236
;
a
sio:SIO_001121
.
}
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_provenance
{
dgn-np:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_assertion
dcterms:description
"[The array-CGH profile of this patient confirms the deletion encompassing the typically deleted region associated with the velocardiofacial DiGeorge syndrome and provides no support for additional gene copy number aberrations on 22q.]. 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:14556248
;
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:NP416661.RAF-SHThgLK5Ipx-uUgFVMy-WtQ733zXWP0Wu9h13wru8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:54+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" .
}