@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM
> .
@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:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_head
{
this:
np:hasAssertion
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_assertion
;
np:hasProvenance
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_provenance
;
np:hasPublicationInfo
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_assertion
a
np:Assertion
.
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_provenance
a
np:Provenance
.
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGN9146cc08d498f1cf58019cc6f430212e
sio:SIO_000628
miriam-gene:4204
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_provenance
{
dgn-np:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_assertion
dcterms:description
"[However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded.]. 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:11521215
;
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:NP480383.RAIu6ose4pJjuuJPxTwt2RerRNdEbU2wsRTUdVekcYBKM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:47+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" .
}