@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_head
{
this:
np:hasAssertion
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion
;
np:hasProvenance
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance
;
np:hasPublicationInfo
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion
a
np:Assertion
.
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance
a
np:Provenance
.
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion
{
miriam-gene:22941
a
ncit:C16612
.
lld:C0018817
a
ncit:C7057
.
dgn-gda:DGNe453beb4972b3d3e210f8f2e313696ea
sio:SIO_000628
miriam-gene:22941
,
lld:C0018817
;
a
sio:SIO_001121
.
}
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance
{
dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion
dcterms:description
"[DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes.]. 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:20473310
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:53+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}