@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU
> .
@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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_head
{
this:
np:hasAssertion
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion
;
np:hasProvenance
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance
;
np:hasPublicationInfo
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion
a
np:Assertion
.
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance
a
np:Provenance
.
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C1850889
a
ncit:C7057
.
dgn-gda:DGNfe6c4c0b164bd3fda0727f03c8c80e62
sio:SIO_000628
miriam-gene:8291
,
lld:C1850889
;
a
sio:SIO_001122
.
}
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_provenance
{
dgn-np:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_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:NP95.RA9V14FXEBZAek62yghIJPJDksh30xRIHjBa9Sk6szPXU130_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
<
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" .
}