@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0
> .
@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:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_head
{
this:
np:hasAssertion
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion
;
np:hasProvenance
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance
;
np:hasPublicationInfo
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion
a
np:Assertion
.
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance
a
np:Provenance
.
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion
{
miriam-gene:85358
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGN5e1d3f643448f23606fe9c60bb63a710
sio:SIO_000628
miriam-gene:85358
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_provenance
{
dgn-np:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_assertion
dcterms:description
"[The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects.]. 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:18523453
;
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:NP674910.RAW_Nv9JbQUPLRdDSK9vHR_-AJiMP3Bl7nqO2hVcf6bk0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:51+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" .
}