@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs
> .
@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/v3.0.0/void/
> .
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_head
{
this:
np:hasAssertion
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_assertion
;
np:hasProvenance
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_provenance
;
np:hasPublicationInfo
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_assertion
a
np:Assertion
.
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_provenance
a
np:Provenance
.
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0751036
a
ncit:C7057
.
dgn-gda:DGN31e0ada46f5db86a47d15ead5af153c0
sio:SIO_000628
miriam-gene:5376
,
lld:C0751036
;
a
sio:SIO_001122
.
}
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_provenance
{
dgn-np:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_assertion
dcterms:description
"[This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.]. 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:15050444
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP632554.RAd_xjqZBMtAwJDYRmfETsNA1NUsTX5zCK_wvbaaLepTs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:59+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}