@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o
> .
@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:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_head
{
this:
np:hasAssertion
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_assertion
;
np:hasProvenance
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_provenance
;
np:hasPublicationInfo
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_assertion
a
np:Assertion
.
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_provenance
a
np:Provenance
.
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_assertion
{
miriam-gene:6899
a
ncit:C16612
.
lld:C0220704
a
ncit:C7057
.
dgn-gda:DGN1086e83a8d042341fd6bd5b2872c577a
sio:SIO_000628
miriam-gene:6899
,
lld:C0220704
;
a
sio:SIO_001121
.
}
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_provenance
{
dgn-np:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_assertion
dcterms:description
"[The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGeorge/velo-cardio-facial syndrome (DG/VCFS).]. 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:9550365
;
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:NP305523.RAhDCt1b9lUBmj0Uk4TFh37pbX46j2cQnyEP0Im07Zh1o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:55+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" .
}