@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_head
{
this:
np:hasAssertion
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_assertion
;
np:hasProvenance
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_provenance
;
np:hasPublicationInfo
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_assertion
a
np:Assertion
.
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_provenance
a
np:Provenance
.
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_assertion
{
miriam-gene:26277
a
ncit:C16612
.
lld:C1327916
a
ncit:C7057
.
dgn-gda:DGNfef9b8893f0cf188e91812ed09a2005c
sio:SIO_000628
miriam-gene:26277
,
lld:C1327916
;
a
sio:SIO_001121
.
}
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_provenance
{
dgn-np:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_assertion
dcterms: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_literature
;
sio:SIO_000772
miriam-pubmed:18252230
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP571498.RAaVrDavGPJ9SnTGcVmXhnF7n204yZCnpcFRZV5G_kbvM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:44+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: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" .
}