@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ
> .
@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/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#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_head
{
this:
np:hasAssertion
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_assertion
;
np:hasProvenance
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_assertion
a
np:Assertion
.
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_provenance
a
np:Provenance
.
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0728829
a
ncit:C7057
.
dgn-gda:DGNa0661c6334c401be48ce15a746252c20
sio:SIO_000628
miriam-gene:5376
,
lld:C0728829
;
a
sio:SIO_001121
.
}
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_provenance
{
dgn-np:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_assertion
dcterms:description
"[The 29-year-old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy (pes cavus, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (SNAPs).]. 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:23279344
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP343794.RAHDZpf-pYhPtmvu6xTrgMBSa_4OsyNTH4hRIH51fqzQQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:22+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}