@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI
> .
@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:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_head
{
this:
np:hasAssertion
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion
;
np:hasProvenance
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion
a
np:Assertion
.
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance
a
np:Provenance
.
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion
{
miriam-gene:4359
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN9e51751374ddd58a39b8926d76f1964f
sio:SIO_000628
miriam-gene:4359
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance
{
dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_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
;
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:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_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
dgn-void:disgenetv3.0rdf
;
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" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}