@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w
> .
@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:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_head
{
this:
np:hasAssertion
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion
;
np:hasProvenance
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance
;
np:hasPublicationInfo
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion
a
np:Assertion
.
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance
a
np:Provenance
.
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion
{
miriam-gene:11141
a
ncit:C16612
.
lld:C0432072
a
ncit:C7057
.
dgn-gda:DGN12bb78b32fdbc394f845e36d1784b515
sio:SIO_000628
miriam-gene:11141
,
lld:C0432072
;
a
sio:SIO_001121
.
}
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance
{
dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion
dcterms:description
"[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. 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:21271657
;
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:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:18+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" .
}