@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E
> .
@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:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_head
{
this:
np:hasAssertion
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_assertion
;
np:hasProvenance
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_provenance
;
np:hasPublicationInfo
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_assertion
a
np:Assertion
.
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_provenance
a
np:Provenance
.
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C0686353
a
ncit:C7057
.
dgn-gda:DGN4f9ff2d8b89c6c6cb15fef18af1640b6
sio:SIO_000628
miriam-gene:8291
,
lld:C0686353
;
a
sio:SIO_001121
.
}
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_provenance
{
dgn-np:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_assertion
dcterms:description
"[We described recently a large inbred family with autosomal recessive muscular dystrophy in which the LGMD and the DM phenotypes were manifested in separate affected members, and we assigned the gene for this condition to the same locus as in LGMD2B and Miyoshi myopathy.]. 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:9192858
;
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:NP1375304.RAvA4i6Ob3rpSGNl0setnskcUyZLMV3Swv4Ake4BOOI4E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:09+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" .
}