@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4
> .
@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/v3.0.0/void/
> .
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_head
{
this:
np:hasAssertion
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion
;
np:hasProvenance
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance
;
np:hasPublicationInfo
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion
a
np:Assertion
.
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance
a
np:Provenance
.
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion
{
miriam-gene:8905
a
ncit:C16612
.
lld:C1136249
a
ncit:C7057
.
dgn-gda:DGNb2b42bdddcb9d3d39c1e3a91a345aa0f
sio:SIO_000628
miriam-gene:8905
,
lld:C1136249
;
a
sio:SIO_001121
.
}
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance
{
dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion
dcterms:description
"[The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.]. 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:22210230
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:51+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}