@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs
> .
@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:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_head
{
this:
np:hasAssertion
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion
;
np:hasProvenance
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion
a
np:Assertion
.
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance
a
np:Provenance
.
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion
{
miriam-gene:6534
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN4c0ab7979a10601389bcc436b419621a
sio:SIO_000628
miriam-gene:6534
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance
{
dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion
dcterms:description
"[We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins 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:23695276
;
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:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:55+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: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" .
}