@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k
> .
@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:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_head
{
this:
np:hasAssertion
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion
;
np:hasProvenance
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance
;
np:hasPublicationInfo
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion
a
np:Assertion
.
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance
a
np:Provenance
.
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGN47be82027796da851c4d90e53c084194
sio:SIO_000628
miriam-gene:2477
,
lld:C0266617
;
a
sio:SIO_001121
.
}
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance
{
dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion
dcterms:description
"[We first screened 153 patients with MR and facial dysmorphism associated with malformations, or growth anomalies, or familial history, with cytogenetically normal chromosomes, and the absence of FRAXA mutation and subtelomeric rearrangements.]. 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:16773131
;
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:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:43+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" .
}