@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_assertion
;
np:hasProvenance
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_provenance
;
np:hasPublicationInfo
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_assertion
a
np:Assertion
.
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_provenance
a
np:Provenance
.
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:472
a
ncit:C16612
.
lld:C0006142
a
ncit:C7057
.
dgn-gda:DGN8a4de82f235cfaff491f8565fa7a65fc
sio:SIO_000628
miriam-gene:472
,
lld:C0006142
;
a
sio:SIO_001122
.
}
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_provenance
{
dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_assertion
dcterms:description
"[Since c.7271T>G is only one of many rare ATM variants predicted to have deleterious consequences on protein function, an effective means of identifying and grouping these variants is essential to assess the contribution of ATM variants to individual risk and to the incidence of breast cancer in the population.]. 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:16958054
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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 .
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dgn-np:NP59602.RAmYWJatEtPSaOgH3RqHiCE-RBpnoigxNEgKnNYtgW3Hg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:28+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
<
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> , <
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> , <
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
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"v2.1.0" .
}