@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug
> .
@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:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_head
{
this:
np:hasAssertion
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_assertion
;
np:hasProvenance
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_provenance
;
np:hasPublicationInfo
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_assertion
a
np:Assertion
.
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_provenance
a
np:Provenance
.
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_assertion
{
miriam-gene:158
a
ncit:C16612
.
lld:C0008073
a
ncit:C7057
.
dgn-gda:DGN071afbc06c3d4ae92a28ce5e0855c8ba
sio:SIO_000628
miriam-gene:158
,
lld:C0008073
;
a
sio:SIO_001121
.
}
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_provenance
{
dgn-np:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_assertion
dcterms:description
"[These observations suggest that the instability of ASL underlies the severe developmental disorder in the affected children, and that mutations in the ASL gene may result in other cases of mental retardation and autistic features.]. 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:1302001
;
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:NP884735.RAeOXCFBGMRl37UEBgMdDsjjSGWOFeyDGlQVZVks3u1ug130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:00+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" .
}