@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI
> .
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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/
> .
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{
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np:hasAssertion
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
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a
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{
miriam-gene:5376
a
ncit:C16612
.
lld:C0598589
a
ncit:C7057
.
dgn-gda:DGN20aacf27efc851a9665683061b3e9e64
sio:SIO_000628
miriam-gene:5376
,
lld:C0598589
;
a
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.
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dgn-np:NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_provenance
{
dgn-np:NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion
dcterms:description
"[We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:25429913
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
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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 .
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dgn-np:NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:08+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
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;
pav:authoredBy
<
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> , <
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" .
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"v4.0.0" .
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