@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_assertion
;
np:hasProvenance
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_provenance
;
np:hasPublicationInfo
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_assertion
a
np:Assertion
.
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_provenance
a
np:Provenance
.
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_assertion
{
miriam-gene:5827
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNaea35a555141b9f38e0e8ef121fddf77
sio:SIO_000628
miriam-gene:5827
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_provenance
{
dgn-np:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_assertion
dcterms:description
"[Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.]. 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:21194947
;
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:NP200735.RABz4a3wF2fnyNs6gjpjrm38FkB2myNyc-RIwTVuoCueA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}