@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw
> .
@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:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_head
{
this:
np:hasAssertion
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_assertion
;
np:hasProvenance
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_provenance
;
np:hasPublicationInfo
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_assertion
a
np:Assertion
.
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_provenance
a
np:Provenance
.
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_assertion
{
miriam-gene:26277
a
ncit:C16612
.
lld:C0265965
a
ncit:C7057
.
dgn-gda:DGNf6f3dc4f35bfe7d502e8ca5b93c3cd85
sio:SIO_000628
miriam-gene:26277
,
lld:C0265965
;
a
sio:SIO_001121
.
}
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_provenance
{
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_assertion
dc:description
"[Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation.]. 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:18252230
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP31926.RADtGyV0xJRrkt_Q3SvD73M5WWeT9e6soLz3_RoYxvCyw130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:13+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}