@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg
> .
@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:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_head
{
this:
np:hasAssertion
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_assertion
;
np:hasProvenance
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_provenance
;
np:hasPublicationInfo
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_assertion
a
np:Assertion
.
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_provenance
a
np:Provenance
.
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGNfee206323471b1b8af7ab274c2f5c9dd
sio:SIO_000628
miriam-gene:2477
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_provenance
{
dgn-np:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_assertion
dcterms:description
"[These findings suggested that analysis of (CGG)n repeat within the FMR1 gene by PCR technique could efficiently detect premutation carriers and that negative PCR products in mentally retarded males might highly imply the diagnosis of fragile X syndrome after the false negative results have been excluded by diplex PCR.]. 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:12840860
;
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:NP400430.RAKa781_zW7IEAluMeE9GfzCeweJjG9S8fXPBkRhRjSCg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:47+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" .
}