@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc
> .
@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:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_head
{
this:
np:hasAssertion
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_assertion
;
np:hasProvenance
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_provenance
;
np:hasPublicationInfo
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_assertion
a
np:Assertion
.
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_provenance
a
np:Provenance
.
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_assertion
{
miriam-gene:546
a
ncit:C16612
.
lld:C1845055
a
ncit:C7057
.
dgn-gda:DGN8d9d049f915c5d6cc33eaab1462220d3
sio:SIO_000628
miriam-gene:546
,
lld:C1845055
;
a
sio:SIO_001121
.
}
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_provenance
{
dgn-np:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_assertion
dcterms:description
"[The effects of individual point mutations on the folding state and stability of the ADD domain correlate well with the levels of mutant ATRX protein in patients, providing insights into the molecular pathophysiology of ATR-X 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:17609377
;
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:NP618353.RAWW5fhsVg9dfTCSukbxU1YYhharlGJwgJ9D7ns6qG_Yc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:26+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" .
}