@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI
> .
@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/v4.0.0/void/
> .
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_head
{
this:
np:hasAssertion
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_assertion
;
np:hasProvenance
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_assertion
a
np:Assertion
.
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_provenance
a
np:Provenance
.
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_assertion
{
miriam-gene:10518
a
ncit:C16612
.
lld:C0018817
a
ncit:C7057
.
dgn-gda:DGN1ec1bac279a0ac2d55a83379325f87bb
sio:SIO_000628
miriam-gene:10518
,
lld:C0018817
;
a
sio:SIO_001121
.
}
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_provenance
{
dgn-np:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_assertion
dcterms:description
"[Several of the CGH-specific CNVs are rare in population frequency and impact previously reported ASD genes (e.g., NRXN1, GRM8, DPYD), as well as novel ASD candidate genes (e.g., CIB2, DAPP1, SAE1), and all were inherited except for a de novo CNV in the GPHN gene.]. 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:23275889
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1039488.RAgvO6u5NgakSocfIWpN8qupAQctCG0R_Y-_YcEMlkVZI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:37+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}