@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI
> .
@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
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_assertion
a
np:Assertion
.
dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_provenance
a
np:Provenance
.
dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:1028
a
ncit:C16612
.
lld:C0795690
a
ncit:C7057
.
dgn-gda:DGN3330822e11269371126c281e56d10f04
sio:SIO_000628
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,
lld:C0795690
;
a
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.
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dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_provenance
{
dgn-np:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_assertion
dcterms:description
"[We analyzed 72 patients (50 BWS, 17 with isolated hemihyperplasia (IH), three with omphalocele, and two with macroglossia) for CDKN1C defects with the aim to search for new mutations and to define genotype-phenotype correlations.]. 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:20503313
;
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:NP469593.RAijQg0GiXAcX2Yji7_Vxak77vYBDA3ibanNRGrwKwdsI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:41+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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> , <
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> , <
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> ;
pav:createdBy
<
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pav:version
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