@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY
> .
@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:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_assertion
;
np:hasProvenance
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_provenance
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np:hasPublicationInfo
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_assertion
a
np:Assertion
.
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_provenance
a
np:Provenance
.
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_assertion
{
miriam-gene:657
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGNbb9a04c84d8358640e1a5e5e7dc1dd66
sio:SIO_000628
miriam-gene:657
,
lld:C0266617
;
a
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.
}
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_provenance
{
dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_assertion
dcterms:description
"[We reason that, even in the absence of juvenile polyposis syndrome, sequencing and copy number analysis of BMPR1A should be considered in patients with (atrioventricular) septal defects, especially when associated with facial dysmorphism and anomalous growth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:22067610
;
prov:wasDerivedFrom
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;
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 .
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dgn-np:NP913265.RARafRNN7Bffn-_2WQ26wBeJynPySp3qiLJBAip4AcMqY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:20+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
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pav:authoredBy
<
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> , <
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
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