@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60
> .
@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/v3.0.0/void/
> .
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_head
{
this:
np:hasAssertion
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_assertion
;
np:hasProvenance
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_provenance
;
np:hasPublicationInfo
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_assertion
a
np:Assertion
.
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_provenance
a
np:Provenance
.
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_assertion
{
miriam-gene:6334
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGN3766ed3295668c710d3219b641fef7c9
sio:SIO_000628
miriam-gene:6334
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_provenance
{
dgn-np:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_assertion
dcterms:description
"[The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes.]. 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:9562526
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP683346.RANVikJ_a_8qD-2Y3KD4AB3lmGPNycMq1yp9MNsQtWN60130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:32+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}