@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk
> .
@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:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_head
{
this:
np:hasAssertion
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_assertion
;
np:hasProvenance
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_provenance
;
np:hasPublicationInfo
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_assertion
a
np:Assertion
.
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_provenance
a
np:Provenance
.
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0442874
a
ncit:C7057
.
dgn-gda:DGN0647054a380a67c21e150a199e404ebf
sio:SIO_000628
miriam-gene:5376
,
lld:C0442874
;
a
sio:SIO_001121
.
}
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_provenance
{
dgn-np:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_assertion
dcterms:description
"[Each of these CNVs includes either the entire PMP22 gene, or exon(s) only, or ultraconserved potential regulatory sequences upstream of PMP22, further supporting the contention that PMP22 is the critical gene mediating the neuropathy phenotypes associated with 17p12 rearrangements.]. 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:20493460
;
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:NP813944.RAguQhDiVLKWXXWdsT1co30xpSth4ob0GJ3ClW-TGzCVk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:54+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" .
}