@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE
> .
@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:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_head
{
this:
np:hasAssertion
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion
;
np:hasProvenance
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion
a
np:Assertion
.
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance
a
np:Provenance
.
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0442874
a
ncit:C7057
.
dgn-gda:DGN251df57f585664654a385c1b2a33fd21
sio:SIO_000628
miriam-gene:5376
,
lld:C0442874
;
a
sio:SIO_001121
.
}
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance
{
dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion
dcterms:description
"[A son heterozygous for the PMP22 point mutation had no signs of neuropathy, while two others heterozygous for the deletion had HNPP, suggesting that point mutations in PMP22 can result in dominant and recessive alleles contributing to 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:8252046
;
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:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:52+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" .
}