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http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
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http://linkedlifedata.com/resource/umls/id/
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http://identifiers.org/ncbigene/
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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this:
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np:Assertion
.
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a
np:Provenance
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{
miriam-gene:2710
a
ncit:C16612
.
lld:C0001623
a
ncit:C7057
.
dgn-gda:DGN8a37a7fdd9f2591dd0860b516e1be66c
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,
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dgn-np:NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion
dcterms:description
"[We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
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sio:SIO_000772
miriam-pubmed:18762570
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
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dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
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;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
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dgn-np:NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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dcterms:subject
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