@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68
> .
@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:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_head
{
this:
np:hasAssertion
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_assertion
;
np:hasProvenance
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_provenance
;
np:hasPublicationInfo
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_assertion
a
np:Assertion
.
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_provenance
a
np:Provenance
.
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_assertion
{
miriam-gene:6223
a
ncit:C16612
.
lld:C1260899
a
ncit:C7057
.
dgn-gda:DGNe55605bc0e5b409db8f4a84123b518be
sio:SIO_000628
miriam-gene:6223
,
lld:C1260899
;
a
sio:SIO_001121
.
}
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_provenance
{
dgn-np:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_assertion
dcterms:description
"[The role of mutations in RPS19 in erythropoiesis or developmental defects in DBA patients is not obvious, and the increased frequency of osteogenic sarcomas suggests that at least that subset of patients may have a mutant tumor suppressor gene (such as p53, the mutant gene in Li-Fraumeni syndrome) [68].]. 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:12430621
;
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:NP374267.RAnLT0Z3YRTl18AojdAT8B47hBL8A8zx1Ov-HeA0iGh68130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:35+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:disgenetv3.0rdf
;
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" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}