@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM
> .
@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:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_head
{
this:
np:hasAssertion
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_assertion
;
np:hasProvenance
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_provenance
;
np:hasPublicationInfo
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_assertion
a
np:Assertion
.
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_provenance
a
np:Provenance
.
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0038506
a
ncit:C7057
.
dgn-gda:DGN994a063f41938d7f4e8ca8cf8e1d884c
sio:SIO_000628
miriam-gene:2332
,
lld:C0038506
;
a
sio:SIO_001121
.
}
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_provenance
{
dgn-np:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_assertion
dcterms:description
"[A distinctive pattern of tapering or `stutter` polymerase chain reaction amplification was evident on capillary electrophoresis in male and female patients harboring all expanded allele lengths examined (up to 2000 CGG repeats) and could be used to differentiate normal, intermediate, premutation, and full mutation alleles.]. 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:20168238
;
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:NP188504.RA29rpT2pfWBFpEeN9NiQBkFM_FN7da1FlidE6F6IHqJM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:43+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" .
}