@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw
> .
@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:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_head
{
this:
np:hasAssertion
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion
;
np:hasProvenance
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance
;
np:hasPublicationInfo
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion
a
np:Assertion
.
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance
a
np:Provenance
.
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion
{
miriam-gene:26123
a
ncit:C16612
.
lld:C0005941
a
ncit:C7057
.
dgn-gda:DGNef2e040edeeb4cae0eb6d729ed1e4466
sio:SIO_000628
miriam-gene:26123
,
lld:C0005941
;
a
sio:SIO_001121
.
}
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance
{
dgn-np:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion
dcterms:description
"[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. 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:22883145
;
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:NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:58+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" .
}