@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_assertion
;
np:hasProvenance
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_provenance
;
np:hasPublicationInfo
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_assertion
a
np:Assertion
.
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_provenance
a
np:Provenance
.
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN86c36d28ebeb7c045bb4fe4c89e7725e
sio:SIO_000628
miriam-gene:4204
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_provenance
{
dgn-np:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_assertion
dcterms:description
"[This report supports broadening the phenotype of patients who should be considered for MECP2 mutation analysis to include cases of developmental delay and hypotonia without evidence of an initial period of normal development.]. 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:12210319
;
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:NP879568.RA3BdQEauwD8tObiYGZV8kcxMLQwBzJMUqbPInsy7Ka2g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:57+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:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
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> , <
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" .
}