@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g
> .
@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:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_head
{
this:
np:hasAssertion
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_assertion
;
np:hasProvenance
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_provenance
;
np:hasPublicationInfo
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_assertion
a
np:Assertion
.
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_provenance
a
np:Provenance
.
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_assertion
{
miriam-gene:22995
a
ncit:C16612
.
lld:C0004135
a
ncit:C7057
.
dgn-gda:DGN1fb688b6e27c986a5bbf1039c123b909
sio:SIO_000628
miriam-gene:22995
,
lld:C0004135
;
a
sio:SIO_001121
.
}
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_provenance
{
dgn-np:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_assertion
dcterms:description
"[Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.]. 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:21131973
;
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:NP856990.RAl70ENSO0riOUSJXeQbgth_M1DRZu9_Zp9n6HBTr626g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:13+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: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" .
}