@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o
> .
@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:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_head
{
this:
np:hasAssertion
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_assertion
a
np:Assertion
.
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_provenance
a
np:Provenance
.
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_assertion
{
miriam-gene:472
a
ncit:C16612
.
lld:C0023434
a
ncit:C7057
.
dgn-gda:DGN3d9a04c8c85159c5cb45faecfbe5cfd7
sio:SIO_000628
miriam-gene:472
,
lld:C0023434
;
a
sio:SIO_001121
.
}
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_provenance
{
dgn-np:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_assertion
dcterms:description
"[A further important application of RNA-sequencing was for mutation detection and revealed 16–30 missense mutations per sample; notably many of these changes were found in genes with a strong potential for involvement in CLL pathogenesis, e.g., ATM and NOTCH2.This study not only demonstrates the effectiveness of RNA-sequencing for identifying mutations, quantifying gene expression and detecting splicing events, but also highlights the potential such global approaches have to significantly advance our understanding of the molecular mechanisms behind CLL development.]. 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:22674506
;
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:NP987856.RA3XyNkVwbkUasioLH5bIGPznAGuQYLwq8X21kONHUk9o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:12+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
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;
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
"v4.0.0.0" .
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pav:version
"v4.0.0" .
}