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http://rdf.disgenet.org/nanopublications.trig#NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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
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a
np:Assertion
.
dgn-np:NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ130_provenance
a
np:Provenance
.
dgn-np:NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ130_publicationInfo
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{
miriam-gene:9378
a
ncit:C16612
.
lld:C1970431
a
ncit:C7057
.
dgn-gda:DGNa601a1720bc51d220864cbf8e634e4ca
sio:SIO_000628
miriam-gene:9378
,
lld:C1970431
;
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.
}
dgn-np:NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ130_provenance
{
dgn-np:NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ130_assertion
dcterms:description
"[We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:19896112
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP24864.RA5AqDIP1IMBfEUD9Pa4GzLe0t8BMIbTCqWM-EibLcNbQ130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
pav:authoredBy
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> , <
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> , <
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> ;
pav:createdBy
<
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