@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c
> .
@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 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:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_head
{
this:
np:hasAssertion
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_assertion
;
np:hasProvenance
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_provenance
;
np:hasPublicationInfo
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_assertion
a
np:Assertion
.
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_provenance
a
np:Provenance
.
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_assertion
{
miriam-gene:5728
a
ncit:C16612
.
lld:C0008073
a
ncit:C7057
.
dgn-gda:DGN291826991e76e17ed756301991c3dcbd
sio:SIO_000628
miriam-gene:5728
,
lld:C0008073
;
a
sio:SIO_001121
.
}
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_provenance
{
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_assertion
dct:description
"[To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons of the PTEN gene in 40 patients with neurodevelopmental disorders, with or without features of autism spectrum disorder, associated with macrocephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18759867
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP27527.RAsJdOZDkkxY2jTh5WqbjFuezXYlw6T7nFS3piqScNz_c130_publicationInfo
{
this:
dct:created
"2014-10-02T12:32:11+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}