@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU
> .
@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/v3.0.0/void/
> .
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_head
{
this:
np:hasAssertion
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_assertion
;
np:hasProvenance
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_provenance
;
np:hasPublicationInfo
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_assertion
a
np:Assertion
.
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_provenance
a
np:Provenance
.
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_assertion
{
miriam-gene:284058
a
ncit:C16612
.
lld:C1864871
a
ncit:C7057
.
dgn-gda:DGNa13b49de7989f3c8461b7bea027a95c9
sio:SIO_000628
miriam-gene:284058
,
lld:C1864871
;
a
sio:SIO_001122
.
}
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_provenance
{
dgn-np:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_assertion
dcterms:description
"[Previously reported molecular analyses of patients with 17q21.31 microdeletion syndrome defined a 493 kb genomic fragment that was deleted in most patients after taking into account frequent copy number variations in normal controls, but the deleted interval was significantly smaller (205 kb) in one of our patients, encompassing only the MAPT, STH and KIAA1267 genes.]. 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:21094706
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP983907.RAXacSiI_27-BUOaFun525wetU_wQzV83c6bvoMfce5mU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:41+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}