@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0
> .
@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:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_head
{
this:
np:hasAssertion
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_assertion
;
np:hasProvenance
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_provenance
;
np:hasPublicationInfo
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_assertion
a
np:Assertion
.
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_provenance
a
np:Provenance
.
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_assertion
{
miriam-gene:64324
a
ncit:C16612
.
lld:C0175695
a
ncit:C7057
.
dgn-gda:DGNdd659088d77dded1e91d8b604ff4ceff
sio:SIO_000628
miriam-gene:64324
,
lld:C0175695
;
a
sio:SIO_001121
.
}
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_provenance
{
dgn-np:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_assertion
dcterms:description
"[Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos 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:18001468
;
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:NP24878.RAaX8OeFsmzB4nl5bTSs5MF_N1k8BrhM_dSYYxIw9T-m0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:10+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" .
}