@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs
> .
@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:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_head
{
this:
np:hasAssertion
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_assertion
;
np:hasProvenance
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_provenance
;
np:hasPublicationInfo
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_assertion
a
np:Assertion
.
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_provenance
a
np:Provenance
.
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C1834304
a
ncit:C7057
.
dgn-gda:DGN6a7e25590f8a7b61b0b8573af810abfc
sio:SIO_000628
miriam-gene:5376
,
lld:C1834304
;
a
sio:SIO_001121
.
}
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_provenance
{
dgn-np:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_assertion
dcterms:description
"[In a clinical, electrophysiologic, and molecular study of two families with HNA, we show that the PMP22 gene is not deleted, duplicated, or mutated in HNA and that the disease is not linked to any other gene in the HNPP deleted region.]. 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:7991107
;
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:NP491451.RAnmqMp8v6EWJzVhAVNfz7Ot_jidwERtv0sQ12rY27Uhs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:53+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" .
}