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http://rdf.disgenet.org/resource/nanopub/NP1056193.RARZrSBoJQXasC8IMC9jlLOOQtTmY7feCVFtR7K_4FWiM
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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/
> .
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{
this:
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np:Assertion
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miriam-gene:2271
a
ncit:C16612
.
lld:C0042133
a
ncit:C7057
.
dgn-gda:DGN3c58f0acd236f034cac70efed61ced1c
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,
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dgn-np:NP1056193.RARZrSBoJQXasC8IMC9jlLOOQtTmY7feCVFtR7K_4FWiM130_provenance
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dgn-np:NP1056193.RARZrSBoJQXasC8IMC9jlLOOQtTmY7feCVFtR7K_4FWiM130_assertion
dcterms:description
"[To investigate the frequency of MED12 exon 2 mutations in histopathological uterine leiomyoma variants, we screened altogether 206 lesions, including 69 histopathologically common leiomyomas, 59 cellular (23 cellular and 36 highly cellular), 18 atypical and 26 mitotically active leiomyomas, as well as 34 uterine fibroid samples from 14 hereditary leiomyomatosis and renal cell cancer patients with a heterozygous germ line mutation in fumarate hydratase (FH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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miriam-pubmed:23443020
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prov:wasGeneratedBy
eco:ECO_0000203
.
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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
"DisGeNET evidence - LITERATURE"@en .
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dgn-np:NP1056193.RARZrSBoJQXasC8IMC9jlLOOQtTmY7feCVFtR7K_4FWiM130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
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> , <
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