@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw
> .
@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/v3.0.0/void/
> .
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_head
{
this:
np:hasAssertion
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion
;
np:hasProvenance
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance
;
np:hasPublicationInfo
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion
a
np:Assertion
.
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance
a
np:Provenance
.
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion
{
miriam-gene:5080
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN0e8a6e09129d932d14d22ede0c202b9e
sio:SIO_000628
miriam-gene:5080
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance
{
dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion
dcterms:description
"[Thus, the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR 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:24357251
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:45+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}