@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA
> .
@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:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_head
{
this:
np:hasAssertion
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion
a
np:Assertion
.
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_provenance
a
np:Provenance
.
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a
np:PublicationInfo
.
}
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{
miriam-gene:5979
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGN0507e9ccea0a14c346b16928b1a3fad6
sio:SIO_000628
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,
lld:C2931876
;
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.
}
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_provenance
{
dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion
dcterms:description
"[We conclude that genomic rearrangements in RET are rare and were not responsible for the HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether because the confidence to identify variation in at least two percent of the individuals was only 95%.]. 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:19183406
;
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 .
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dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_publicationInfo
{
this:
dcterms:created
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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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;
pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v4.0.0" .
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