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> .
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> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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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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a
np:Nanopublication
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dgn-np:NP392093.RAD8Ky9udxHiEOKlWF6Z9CspjY5XekGW99Au8t6qB4jSk130_assertion
a
np:Assertion
.
dgn-np:NP392093.RAD8Ky9udxHiEOKlWF6Z9CspjY5XekGW99Au8t6qB4jSk130_provenance
a
np:Provenance
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{
miriam-gene:4360
a
ncit:C16612
.
lld:C0027831
a
ncit:C7057
.
dgn-gda:DGN4151702f027dd1c0bb287be61715645f
sio:SIO_000628
miriam-gene:4360
,
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;
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.
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dgn-np:NP392093.RAD8Ky9udxHiEOKlWF6Z9CspjY5XekGW99Au8t6qB4jSk130_provenance
{
dgn-np:NP392093.RAD8Ky9udxHiEOKlWF6Z9CspjY5XekGW99Au8t6qB4jSk130_assertion
dcterms:description
"[We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:20358387
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
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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
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dgn-np:NP392093.RAD8Ky9udxHiEOKlWF6Z9CspjY5XekGW99Au8t6qB4jSk130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
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prv:usedData
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> , <
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> , <
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