@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0
> .
@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 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:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_head
{
this:
np:hasAssertion
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_assertion
;
np:hasProvenance
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_provenance
;
np:hasPublicationInfo
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_assertion
a
np:Assertion
.
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_provenance
a
np:Provenance
.
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C1850808
a
ncit:C7057
.
dgn-gda:DGNd208db6ac48663c492b93cd3c28507fc
sio:SIO_000628
miriam-gene:8291
,
lld:C1850808
;
a
sio:SIO_001122
.
}
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_provenance
{
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_assertion
dcterms:description
"[These findings emphasize the role for the dysferlin gene as being responsible for both LGMD2B and MM, but that the distinction between these two clinical phenotypes requires the identification of additional factor(s), such as modifier gene(s).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10196377
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP94.RAk160QZR0OYxguvIYXxNKmNjLHDn1gH61FQppO0ltNK0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}