@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0
> .
@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:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_head
{
this:
np:hasAssertion
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_assertion
;
np:hasProvenance
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_provenance
;
np:hasPublicationInfo
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_assertion
a
np:Assertion
.
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_provenance
a
np:Provenance
.
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_assertion
{
miriam-gene:79648
a
ncit:C16612
.
lld:C0265202
a
ncit:C7057
.
dgn-gda:DGN9ecec0cf6aa0b5e7f49663a6faff3585
sio:SIO_000628
miriam-gene:79648
,
lld:C0265202
;
a
sio:SIO_001121
.
}
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_provenance
{
dgn-np:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_assertion
dcterms:description
"[Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxia telangiectasia and Rad3 related (ATR) or pericentrin (PCNT), leading to disturbed ATR signaling.]. 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:19546241
;
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:NP282116.RAqsfBSg1GpdIyMhCJoY6kAj-w6NSkMfeWR3INY1aIid0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:39+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" .
}