@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4
> .
@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:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_head
{
this:
np:hasAssertion
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_assertion
;
np:hasProvenance
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_provenance
;
np:hasPublicationInfo
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_assertion
a
np:Assertion
.
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_provenance
a
np:Provenance
.
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_assertion
{
miriam-gene:79017
a
ncit:C16612
.
lld:C0033300
a
ncit:C7057
.
dgn-gda:DGNce5869dd871ff6c85c2b3e1445d369b1
sio:SIO_000628
miriam-gene:79017
,
lld:C0033300
;
a
sio:SIO_001121
.
}
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_provenance
{
dgn-np:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_assertion
dcterms:description
"[Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11.]. 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:12714972
;
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:NP601580.RArqaMLXG63kbagJ4D7klGbVlmVTCzPbBAXzILh_RzdT4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:01+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" .
}