@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas
> .
@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#
> .
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_head
{
this:
np:hasAssertion
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_assertion
;
np:hasProvenance
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_provenance
;
np:hasPublicationInfo
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_assertion
a
np:Assertion
.
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_provenance
a
np:Provenance
.
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0162635
a
ncit:C7057
.
dgn-gda:DGNf3a27551ce17270c838a4df534f0f7bb
sio:SIO_000628
miriam-gene:3342
,
lld:C0162635
;
a
sio:SIO_001121
.
}
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_provenance
{
dgn-np:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_assertion
dcterms:description
"[These patients illustrate the expanding spectrum of molecular findings in AS, reinforce the need to maintain suspicion when clinical features suggest AS but initial testing is normal, and show the power of CGH as a tool to uncover partial UBE3A deletions.]. 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:17036311
;
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:NP573268.RAwq3XqLDZsV7fmdRZjtHEAi3w-BehCDveeEd4kwdRLas130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:45+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}