@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI
> .
@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:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_head
{
this:
np:hasAssertion
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_assertion
;
np:hasProvenance
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_provenance
;
np:hasPublicationInfo
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_assertion
a
np:Assertion
.
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_provenance
a
np:Provenance
.
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_assertion
{
miriam-gene:9378
a
ncit:C16612
.
lld:C0004936
a
ncit:C7057
.
dgn-gda:DGNe3164be9fa25f870b04863c1342593c0
sio:SIO_000628
miriam-gene:9378
,
lld:C0004936
;
a
sio:SIO_001121
.
}
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_provenance
{
dgn-np:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_assertion
dcterms:description
"[The observations suggest a possible gene-dose effect of NRXN1 mutations on type and severity of mental illness and support the notion that the penetrance and pleiotropy of pathogenic CNVs in general are determined by additional genetic variants in the genome.]. 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:22337556
;
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:NP767752.RAHfOJWfOLhEqQ6LYCQDvGZnTysrZtojk4jZWjAWj3_BI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:44+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" .
}