@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_head
{
this:
np:hasAssertion
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_assertion
;
np:hasProvenance
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_assertion
a
np:Assertion
.
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_provenance
a
np:Provenance
.
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_assertion
{
miriam-gene:2334
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN39661ed839440dc66a6d5064f2c878ba
sio:SIO_000628
miriam-gene:2334
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_provenance
{
dgn-np:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_assertion
dcterms:description
"[Here, high resolution melting (HRM) was used to screen for FMR1 gene mutations in 508 males with clinical signs of mental retardation and developmental delay, but without CGG and GCC repeat expansions in the FMR1 gene and AFF2 genes, respectively.]. 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:25171808
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1215070.RA0qFgsZL1bElvZt7f6uBX_Bh4hvjsUqSXdiXYiwaPZhQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:56+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}