@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60
> .
@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:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_head
{
this:
np:hasAssertion
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion
;
np:hasProvenance
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance
;
np:hasPublicationInfo
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion
a
np:Assertion
.
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance
a
np:Provenance
.
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion
{
miriam-gene:472
a
ncit:C16612
.
lld:C0398791
a
ncit:C7057
.
dgn-gda:DGN4981dc7f53a29ba61fda9e7f662dfb3f
sio:SIO_000628
miriam-gene:472
,
lld:C0398791
;
a
sio:SIO_001121
.
}
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance
{
dgn-np:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion
dcterms:description
"[Ataxia-Telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic diseases with similar cellular phenotypes that are caused by mutations in the recently described ATM (encoding ATM) and NBS1 (encoding p95) genes, respectively.]. 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:11981817
;
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:NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:05+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" .
}