@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U
> .
@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:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_head
{
this:
np:hasAssertion
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_assertion
;
np:hasProvenance
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_provenance
;
np:hasPublicationInfo
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_assertion
a
np:Assertion
.
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_provenance
a
np:Provenance
.
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_assertion
{
miriam-gene:7248
a
ncit:C16612
.
lld:C1854465
a
ncit:C7057
.
dgn-gda:DGN3dacf13eab914a091ab43e11d5f17de1
sio:SIO_000628
miriam-gene:7248
,
lld:C1854465
;
a
sio:SIO_001122
.
}
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_provenance
{
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_assertion
dcterms:description
"[We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.]. 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:9328481
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:54+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" .
}