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http://rdf.disgenet.org/nanopublications.trig#NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4
> .
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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/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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dgn-np:NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
dgn-np:NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4130_provenance
a
np:Provenance
.
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np:PublicationInfo
.
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{
miriam-gene:5376
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNb6539f190ef79929330ce4f1f778137b
sio:SIO_000628
miriam-gene:5376
,
lld:C0007959
;
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.
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dgn-np:NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4130_provenance
{
dgn-np:NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4130_assertion
dcterms:description
"[ This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.]. 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:15050444
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP53058.RAHfYZTO0GGJwpiAThd5VcHjjVsHqS7V6bsljZcIczPR4130_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
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
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> , <
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> , <
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> , <
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pav:createdBy
<
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pav:version
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