@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634
> .
@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:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_head
{
this:
np:hasAssertion
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_assertion
;
np:hasProvenance
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_provenance
;
np:hasPublicationInfo
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_assertion
a
np:Assertion
.
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_provenance
a
np:Provenance
.
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0235820
a
ncit:C7057
.
dgn-gda:DGNfc3d8d63aec6881b1167d1071356e541
sio:SIO_000628
miriam-gene:4204
,
lld:C0235820
;
a
sio:SIO_001121
.
}
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_provenance
{
dgn-np:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_assertion
dcterms:description
"[However, mutations in MECP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome-like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities.]. 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:16225824
;
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:NP788856.RAcALdfJBrMYMNA-gxbu3R7p-IflKXKK2sGBvUd68p634130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:01+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" .
}