@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM
> .
@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:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_head
{
this:
np:hasAssertion
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion
;
np:hasProvenance
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance
;
np:hasPublicationInfo
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion
a
np:Assertion
.
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance
a
np:Provenance
.
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0026106
a
ncit:C7057
.
dgn-gda:DGNa7edd640924491a349f64914a0a6f80c
sio:SIO_000628
miriam-gene:3342
,
lld:C0026106
;
a
sio:SIO_001121
.
}
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance
{
dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion
dcterms:description
"[Given the overlap of the deletions in our two patients with the large-sized NF1 microdeletions but not with the more frequent and smaller NF1 deletions, we hypothesize that more than one gene in the 17q11.2q12 region may be involved in MR. We discuss candidate genes for MR within this interval that was precisely defined through array-CGH analysis.]. 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:17916097
;
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:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:13+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" .
}