@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8
> .
@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:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_head
{
this:
np:hasAssertion
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_assertion
;
np:hasProvenance
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_provenance
;
np:hasPublicationInfo
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_assertion
a
np:Assertion
.
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_provenance
a
np:Provenance
.
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0085584
a
ncit:C7057
.
dgn-gda:DGNcead2f944158e4cdf3fbcb9f3e0993a8
sio:SIO_000628
miriam-gene:4204
,
lld:C0085584
;
a
sio:SIO_001121
.
}
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_provenance
{
dgn-np:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_assertion
dcterms:description
"[This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations.]. 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:11913564
;
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:NP349254.RANkX58yGUK7-yuxWmHnan7C1AG61kOuXeabSsT5ofJq8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:23+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" .
}