@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw
> .
@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:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_head
{
this:
np:hasAssertion
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_assertion
;
np:hasProvenance
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_provenance
;
np:hasPublicationInfo
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_assertion
a
np:Assertion
.
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_provenance
a
np:Provenance
.
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_assertion
{
miriam-gene:1135
a
ncit:C16612
.
lld:C0085541
a
ncit:C7057
.
dgn-gda:DGN003ee8fc5043b780cbb0fd94e41989b4
sio:SIO_000628
miriam-gene:1135
,
lld:C0085541
;
a
sio:SIO_001121
.
}
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_provenance
{
dgn-np:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_assertion
dcterms:description
"[Although over hundred families are on record, only a minority of them have been linked to mutations in the genes coding for the alpha4, alpha2 and beta2 (CHRNA4, CHRNA2, and CHRNB2) subunits of the nAChRs, indicating that ADNFLE is genetically heterogeneous despite a relatively homogeneous clinical picture.]. 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:17662253
;
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:NP396314.RANetIbiZ5eXast67FzmFLaVTgpF4tgptrPP98PVaYZdw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:56+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" .
}