@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044
> .
@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:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_head
{
this:
np:hasAssertion
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion
;
np:hasProvenance
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance
;
np:hasPublicationInfo
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion
a
np:Assertion
.
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance
a
np:Provenance
.
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion
{
miriam-gene:79628
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN004286395eb4f27a2a3f95d10703bf16
sio:SIO_000628
miriam-gene:79628
,
lld:C0007959
;
a
sio:SIO_001122
.
}
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance
{
dgn-np:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion
dcterms:description
"[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. 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:19272779
;
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:NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:17+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" .
}