@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E
> .
@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:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_head
{
this:
np:hasAssertion
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion
;
np:hasProvenance
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance
;
np:hasPublicationInfo
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion
a
np:Assertion
.
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance
a
np:Provenance
.
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion
{
miriam-gene:6334
a
ncit:C16612
.
lld:C0679466
a
ncit:C7057
.
dgn-gda:DGN02930b2ba68f052b7fe9418ff127f821
sio:SIO_000628
miriam-gene:6334
,
lld:C0679466
;
a
sio:SIO_001121
.
}
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance
{
dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion
dcterms:description
"[The phenotypes of the heterozygous individuals suggest that mutations in SCN8A may result in motor and cognitive deficits of variable expressivity, but the study was limited by lack of segregation in the small pedigree and incomplete information about family members.]. 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:16236810
;
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:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:45+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" .
}