@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo
> .
@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/
> .
@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/
> .
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_head
{
this:
np:hasAssertion
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion
a
np:Assertion
.
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_provenance
a
np:Provenance
.
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion
{
miriam-gene:23095
a
ncit:C16612
.
lld:C0598589
a
ncit:C7057
.
dgn-gda:DGN65611f8ceaba738b048430fac4f0e7b6
sio:SIO_000628
miriam-gene:23095
,
lld:C0598589
;
a
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.
}
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_provenance
{
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_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 ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:25429913
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
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 .
}
dgn-np:NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_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
<
http://orcid.org/0000-0001-5999-6269
> , <
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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pav:version
"v4.0.0" .
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