@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs
> .
@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:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_head
{
this:
np:hasAssertion
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_assertion
;
np:hasProvenance
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_provenance
;
np:hasPublicationInfo
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_assertion
a
np:Assertion
.
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_provenance
a
np:Provenance
.
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_assertion
{
miriam-gene:477
a
ncit:C16612
.
lld:C0270860
a
ncit:C7057
.
dgn-gda:DGN5440f15dce8d5afbc691398877151f5a
sio:SIO_000628
miriam-gene:477
,
lld:C0270860
;
a
sio:SIO_001121
.
}
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_provenance
{
dgn-np:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_assertion
dcterms:description
"[In 12 of the families with BM with an apparently dominant inheritance the authors sequenced all exons of the CACNA1A (chromosome 19) and ATP1A2 (chromosome 1) genes responsible for most cases of the autosomal dominantly inherited familial hemiplegic migraine and performed a linkage analysis of chromosome 1 and 19 with a nonparametric or autosomal dominant parametric model using an affected only analysis.]. 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:16567706
;
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:NP832803.RApNZHyvbO3251z8vDhQncYcTg00y-1t-AQ-sq1nRhYAs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:29+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" .
}