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http://rdf.disgenet.org/nanopublications.trig#NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8
> .
@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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_assertion
a
np:Assertion
.
dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_provenance
a
np:Provenance
.
dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:51684
a
ncit:C16612
.
lld:C0025149
a
ncit:C7057
.
dgn-gda:DGN876d65ebe41da85d1d8eda005d89ebe3
sio:SIO_000628
miriam-gene:51684
,
lld:C0025149
;
a
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.
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dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_assertion
dcterms:description
"[We report here that a subset of children with medulloblastoma carry germline and somatic mutations in SUFU (encoding the human suppressor of fused) of the SHH pathway, accompanied by loss of heterozygosity of the wildtype allele.]. 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:12068298
;
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 .
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dgn-np:NP542048.RAepcXiTMWPkj4XJ146oj7xGpCdt3O84BxxTAaLnMl6b8130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
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> , <
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http://orcid.org/0000-0002-9383-528X
> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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