@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk
> .
@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:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_head
{
this:
np:hasAssertion
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_assertion
;
np:hasProvenance
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_provenance
;
np:hasPublicationInfo
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_assertion
a
np:Assertion
.
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_provenance
a
np:Provenance
.
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_assertion
{
miriam-gene:8905
a
ncit:C16612
.
lld:C0796254
a
ncit:C7057
.
dgn-gda:DGNa71325708cb96e54e957191b96d3ca98
sio:SIO_000628
miriam-gene:8905
,
lld:C0796254
;
a
sio:SIO_001121
.
}
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_provenance
{
dgn-np:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_assertion
dcterms:description
"[The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence.]. 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:23756445
;
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:NP810850.RARda8Lb2twvtqsp3gUrlA2UHP-VZx_auWAcY8txlzeCk130_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" .
}