@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ
> .
@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:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_head
{
this:
np:hasAssertion
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_assertion
;
np:hasProvenance
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_assertion
a
np:Assertion
.
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_provenance
a
np:Provenance
.
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_assertion
{
miriam-gene:3480
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN3c2ce676b91110e7b073b06addce4229
sio:SIO_000628
miriam-gene:3480
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_provenance
{
dgn-np:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_assertion
dcterms:description
"[Clinical work-up of this newly identified family, which constitutes the smallest (0.095 Mb) pure 15q26.3 interstitial deletion to date, confirms that disruption of the IGF1R gene does not induce major organ malformation or severe mental retardation.]. 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:19955558
;
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:NP362402.RAwVYQzi61T_kTqu5PJt-K05qhr1QUpC8-kbQKCGzDFRQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:32+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" .
}