@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls
> .
@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:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_head
{
this:
np:hasAssertion
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_assertion
;
np:hasProvenance
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_provenance
;
np:hasPublicationInfo
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_assertion
a
np:Assertion
.
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_provenance
a
np:Provenance
.
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0393814
a
ncit:C7057
.
dgn-gda:DGN32b7cbc7f7ba9fd2ca71f8a301b9cfee
sio:SIO_000628
miriam-gene:5376
,
lld:C0393814
;
a
sio:SIO_001121
.
}
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_provenance
{
dgn-np:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_assertion
dcterms:description
"[We retrospectively analyzed paraffin-embedded sural nerve biopsy specimens from cases suspected of having dominantly inherited motor and sensory neuropathy (HMSN) or hereditary neuropathy with liability to pressure palsy (HNPP), with respect to their proportional DNA content at chromosome 17p11.2-12, encompassing the PMP-22 gene, using polymerase chain reaction (PCR).]. 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:9678509
;
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:NP1400260.RAldv-JE3mMqryLfXWIqK__qh8TAPm6343vdRGtqwA0ls130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:20+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" .
}