@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI
> .
@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:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_head
{
this:
np:hasAssertion
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion
;
np:hasProvenance
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance
;
np:hasPublicationInfo
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion
a
np:Assertion
.
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance
a
np:Provenance
.
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGNdae8258c68e59e5a972bc54c3764242c
sio:SIO_000628
miriam-gene:4204
,
lld:C0035372
;
a
sio:SIO_001121
.
}
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance
{
dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion
dcterms:description
"[The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease.]. 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:14649546
;
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:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:57+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" .
}