@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8
> .
@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:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_head
{
this:
np:hasAssertion
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_assertion
;
np:hasProvenance
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_provenance
;
np:hasPublicationInfo
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_assertion
a
np:Assertion
.
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_provenance
a
np:Provenance
.
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_assertion
{
miriam-gene:472
a
ncit:C16612
.
lld:C0015230
a
ncit:C7057
.
dgn-gda:DGN4eefffd09762531272e7be218b4083be
sio:SIO_000628
miriam-gene:472
,
lld:C0015230
;
a
sio:SIO_001121
.
}
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_provenance
{
dgn-np:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_assertion
dcterms:description
"[Upon finding deleterious mutations in the ataxia telangiectasia mutated (ATM) gene, we confirmed the diagnosis of ataxia telangiectasia (AT) in two infants and then tested archival newborn DBS of additional AT patients for TREC copy number.]. 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:23264026
;
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:NP938246.RAgOt2id6yGabNDQcfRVO7tyM-1iRF4LJ7Yiuzh6IMYa8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:35+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" .
}