@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA
> .
@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:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_head
{
this:
np:hasAssertion
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_assertion
;
np:hasProvenance
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_provenance
;
np:hasPublicationInfo
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_assertion
a
np:Assertion
.
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_provenance
a
np:Provenance
.
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGN2b1716ac7ba17eb4aa077e7262dc8928
sio:SIO_000628
miriam-gene:4204
,
lld:C0035372
;
a
sio:SIO_001122
.
}
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_provenance
{
dgn-np:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_assertion
dcterms:description
"[Females with Rhett syndrome with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age ]. 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:17684768
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP136856.RAb8KxlO-a5NOShC6ofA3jjMbr2AcznE1XXsc_ZokifoA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:11+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" .
}