@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g
> .
@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:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_head
{
this:
np:hasAssertion
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_assertion
;
np:hasProvenance
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_provenance
;
np:hasPublicationInfo
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_assertion
a
np:Assertion
.
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_provenance
a
np:Provenance
.
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0270911
a
ncit:C7057
.
dgn-gda:DGN1ee000bfcf5d5e4f3984c2ff43865f9f
sio:SIO_000628
miriam-gene:5376
,
lld:C0270911
;
a
sio:SIO_001121
.
}
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_provenance
{
dgn-np:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_assertion
dcterms:description
"[In this study we showed that microarray MAPH measurement of PMP22 gene dosage correlates well with PMP22 gene dosage determined by capillary MAPH and that copy number was accurately reported in analyses of DNA from 38 individuals, 12 of which were known to have Charcot-Marie-Tooth disease type 1A (CMT1A).]. 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:16813644
;
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:NP557524.RAYgfl6724lmikpycPxfyc-8bw92JU3V4Xs-5O8708a3g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:57+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" .
}