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http://rdf.disgenet.org/nanopublications.trig#NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs
> .
@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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
dgn-np:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_assertion
a
np:Assertion
.
dgn-np:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_provenance
a
np:Provenance
.
dgn-np:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_publicationInfo
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np:PublicationInfo
.
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{
miriam-gene:26053
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGNbd951d0a9bec208ba12bbca1c03030e4
sio:SIO_000628
miriam-gene:26053
,
lld:C0004352
;
a
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.
}
dgn-np:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_provenance
{
dgn-np:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_assertion
dcterms:description
"[Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant 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:17211639
;
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:NP746409.RADtSwvBHOaLKqUpWFlzgoXSNgVD2s7SQc3q1vqT9axzs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:32+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
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pav:authoredBy
<
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> , <
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> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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> ;
pav:version
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pav:version
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}