@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI
> .
@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:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_head
{
this:
np:hasAssertion
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_assertion
;
np:hasProvenance
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_assertion
a
np:Assertion
.
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_provenance
a
np:Provenance
.
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_assertion
{
miriam-gene:546
a
ncit:C16612
.
lld:C1845055
a
ncit:C7057
.
dgn-gda:DGNfb092665add98b034ef97978083356ad
sio:SIO_000628
miriam-gene:546
,
lld:C1845055
;
a
sio:SIO_001121
.
}
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_provenance
{
dgn-np:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_assertion
dcterms:description
"[The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome.]. 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:25976463
;
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:NP1284189.RA9sEltCHb82WqbKGRRu0BxP7LTD0qHA_Xvns5EWOq9hI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:28+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" .
}