@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0
> .
@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:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_head
{
this:
np:hasAssertion
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_assertion
;
np:hasProvenance
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_assertion
a
np:Assertion
.
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_provenance
a
np:Provenance
.
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNb582f24b3c2b1f84f5d5c5481be0f60c
sio:SIO_000628
miriam-gene:5376
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_provenance
{
dgn-np:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_assertion
dcterms:description
"[The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0.]. 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:9099841
;
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:NP1370415.RA7ugnhmXRTMkazdogBTlrCDSL71Osd1xBSKnqOhGDan0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:07+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" .
}