@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM
> .
@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 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:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_head
{
this:
np:hasAssertion
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion
;
np:hasProvenance
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance
;
np:hasPublicationInfo
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion
a
np:Assertion
.
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance
a
np:Provenance
.
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion
{
miriam-gene:11136
a
ncit:C16612
.
lld:C0010691
a
ncit:C7057
.
dgn-gda:DGN03f5daa65afef59317dba31c3a675f42
sio:SIO_000628
miriam-gene:11136
,
lld:C0010691
;
a
sio:SIO_001122
.
}
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance
{
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion
dcterms:description
"[In conclusion, we developed a reliable and robust MLPA analytic method for SLC3A1 and SLC7A9 genes that represents an optimal complement to DNA sequence analysis in patients with cystinuria, enabling the screening for deletions and duplications.]. 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:19782624
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
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-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:43+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}