@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU
> .
@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:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_head
{
this:
np:hasAssertion
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_assertion
a
np:Assertion
.
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_provenance
a
np:Provenance
.
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGNff7fbee61239383f74e819f1d7a0fdfd
sio:SIO_000628
miriam-gene:2332
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_provenance
{
dgn-np:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_assertion
dcterms:description
"[To improve our understanding of mutations in normal alleles of FMR-1, the following studies were carried out in the Japanese population: a study on length variation in the repeat to determine the allele distribution of the repeat length in a non-retarded population, family studies to observe new mutations in normal allele, and haplotype analyses with microsatellite markers flanking the repeat to confirm estimated mutation rates and founder chromosomes in the fragile X 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:8244331
;
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:NP1336497.RANqgEl08jMOpBi0-N5CqfrnNtwOojOkNUHBr_9ynggYU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:52+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
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;
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" .
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pav:version
"v4.0.0" .
}