@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs
> .
@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/v4.0.0/void/
> .
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_head
{
this:
np:hasAssertion
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_assertion
;
np:hasProvenance
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_assertion
a
np:Assertion
.
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_provenance
a
np:Provenance
.
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0025269
a
ncit:C7057
.
dgn-gda:DGN46329327abb5d2ba9c3b6db8acad1e9c
sio:SIO_000628
miriam-gene:5979
,
lld:C0025269
;
a
sio:SIO_001121
.
}
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_provenance
{
dgn-np:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_assertion
dcterms:description
"[These results indicate that a unique mutation at codon 918 of the RET gene is the most prevalent genetic defect causing MEN 2B, but also that rare MEN 2B cases are associated with different mutations yet to be defined.]. 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:7705835
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1319072.RAHVtx4nGwU-2gHCiuScOlZA-xFO6AZFzrpR5KBSgawQs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:44+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}