@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU
> .
@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:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_head
{
this:
np:hasAssertion
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion
;
np:hasProvenance
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance
;
np:hasPublicationInfo
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion
a
np:Assertion
.
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance
a
np:Provenance
.
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion
{
miriam-gene:4436
a
ncit:C16612
.
lld:C0013080
a
ncit:C7057
.
dgn-gda:DGN8e4c94151c5b3e4e71ab9fa23521bfc8
sio:SIO_000628
miriam-gene:4436
,
lld:C0013080
;
a
sio:SIO_001121
.
}
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance
{
dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion
dcterms:description
"[Applications shown of this multiplex ligation-dependent probe amplification (MLPA) technique include the detection of exon deletions and duplications in the human BRCA1, MSH2 and MLH1 genes, detection of trisomies such as Down's syndrome, characterisation of chromosomal aberrations in cell lines and tumour samples and SNP/mutation detection.]. 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:12060695
;
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:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:26+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" .
}