@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94
> .
@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:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_head
{
this:
np:hasAssertion
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_assertion
a
np:Assertion
.
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_provenance
a
np:Provenance
.
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_assertion
{
miriam-gene:64324
a
ncit:C16612
.
lld:C0175695
a
ncit:C7057
.
dgn-gda:DGNe213dc58b365667fb832faaefd727704
sio:SIO_000628
miriam-gene:64324
,
lld:C0175695
;
a
sio:SIO_001122
.
}
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_provenance
{
dgn-np:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_assertion
dcterms:description
"[The aim of this study was to investigate psychosocial, cognitive, and motor functioning in patients clinically suspected of Sotos syndrome and to examine differences between patients with deletions or mutations of the gene encoding nuclear SET domain-containing protein 1 (NSD1; the major cause of the syndrome) and those without such alterations.]. 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:16780628
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP53569.RA26zriOeoLhJpMU9ZKuBlailmC57pTq42yozIPECjU94130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:25+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
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dgn-void:disgenetrdf
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"v2.1.0" .
}