@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0
> .
@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/v4.0.0/void/
> .
dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_head
{
this:
np:hasAssertion
dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
.
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a
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{
miriam-gene:3712
a
ncit:C16612
.
lld:C0152095
a
ncit:C7057
.
dgn-gda:DGN3713612dab16b9990e92fbff065f3016
sio:SIO_000628
miriam-gene:3712
,
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;
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.
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dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_provenance
{
dgn-np:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_assertion
dcterms:description
"[Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome microdeletions, as well as the trisomy 13, 18 and 21, and (2) KaryoLite BoBs (RUO) which can detect aneuploidy in all chromosomes by quantifying proximal and terminal regions of each chromosomal arm.]. 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:25239751
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1222100.RA_KEmSuNb1CLSD_Oo7h0fLd-Sp5hViEZbWNZf-KUCXK0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:00+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
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> , <
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> , <
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> , <
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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pav:version
"v4.0.0" .
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