@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8
> .
@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:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_head
{
this:
np:hasAssertion
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_assertion
;
np:hasProvenance
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_provenance
;
np:hasPublicationInfo
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_assertion
a
np:Assertion
.
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_provenance
a
np:Provenance
.
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_assertion
{
miriam-gene:57716
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN356fc84058b64b923cee615ca22c0853
sio:SIO_000628
miriam-gene:57716
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_provenance
{
dgn-np:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_assertion
dcterms:description
"[It has been screened in this study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease characterized by severe motor weakness.]. 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:19922348
;
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:NP776510.RAzqvm6KBiMDZaqhjLwvxkTk903X060wHUK2OECSzKPO8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:37+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" .
}