@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM
> .
@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:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_head
{
this:
np:hasAssertion
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_assertion
;
np:hasProvenance
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_provenance
;
np:hasPublicationInfo
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_assertion
a
np:Assertion
.
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_provenance
a
np:Provenance
.
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_assertion
{
miriam-gene:6908
a
ncit:C16612
.
lld:C0497327
a
ncit:C7057
.
dgn-gda:DGN06bc633752d4361aff81375836015ee5
sio:SIO_000628
miriam-gene:6908
,
lld:C0497327
;
a
sio:SIO_001121
.
}
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_provenance
{
dgn-np:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_assertion
dcterms:description
"[The expanded polyglutamine domain in both TBP copies is not correlated with embryonic death indicating that the normal function of the protein is not disrupted by this kind of mutation but may account for the dementia seen in this patient.]. 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:12891385
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP388691.RA_jlExLiSuyYWLb9ytdvfivm2z0-c9EU8CJ7wiRVcfAM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:51+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: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" .
}