@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI
> .
@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/v4.0.0/void/
> .
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_head
{
this:
np:hasAssertion
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion
;
np:hasProvenance
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance
;
np:hasPublicationInfo
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion
a
np:Assertion
.
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance
a
np:Provenance
.
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion
{
miriam-gene:4221
a
ncit:C16612
.
lld:C0025267
a
ncit:C7057
.
dgn-gda:DGNab2f66b95b1319ca037748d14b64e665
sio:SIO_000628
miriam-gene:4221
,
lld:C0025267
;
a
sio:SIO_001122
.
}
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_provenance
{
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_assertion
dcterms:description
"[For facilitated genotypic analysis of multiple endocrine neoplasia type 1 (MEN1), a familial syndrome associated with tumors of the parathyroid and neuroendocrine tissues, we developed two screening methods, heteroduplex mutation assay (HMA) and mutation detection gel analysis (MDGA), both based on electrophoretic discrimination of polymerase chain reaction (PCR) products, to detect the mutations.]. 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:12652570
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP2590.RAutSKuJYy8MmSzRzqUK7l4rEGmh8Egh9E0-rXTVyq6wI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:51+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
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}