@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_head
{
this:
np:hasAssertion
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_assertion
;
np:hasProvenance
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_provenance
;
np:hasPublicationInfo
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_assertion
a
np:Assertion
.
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_provenance
a
np:Provenance
.
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_assertion
{
miriam-gene:175
a
ncit:C16612
.
lld:C0268225
a
ncit:C7057
.
dgn-gda:DGN3b05728f27156998aa36db47764dfc36
sio:SIO_000628
miriam-gene:175
,
lld:C0268225
;
a
sio:SIO_001122
.
}
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_provenance
{
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_assertion
dcterms:description
"[Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11309371
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP238.RABkX7uyPmYkpOjqm9l4ePMjAK2dFvDaha_9O0zT1P200130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:58+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}