@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA
> .
@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:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_head
{
this:
np:hasAssertion
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion
;
np:hasProvenance
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance
;
np:hasPublicationInfo
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion
a
np:Assertion
.
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance
a
np:Provenance
.
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGN8499834ce874063d9ffe53d445b6b4a4
sio:SIO_000628
miriam-gene:4204
,
lld:C0035372
;
a
sio:SIO_001121
.
}
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance
{
dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion
dcterms:description
"[To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely.]. 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:11524737
;
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:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:14+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" .
}