@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM
> .
@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:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_head
{
this:
np:hasAssertion
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_assertion
;
np:hasProvenance
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_provenance
;
np:hasPublicationInfo
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_assertion
a
np:Assertion
.
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_provenance
a
np:Provenance
.
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_assertion
{
miriam-gene:274
a
ncit:C16612
.
lld:C0175709
a
ncit:C7057
.
dgn-gda:DGNa5f81c44626556baba4cac85a05e130c
sio:SIO_000628
miriam-gene:274
,
lld:C0175709
;
a
sio:SIO_001121
.
}
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_provenance
{
dgn-np:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_assertion
dcterms:description
"[In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects.]. 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:21129173
;
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:NP856771.RAhBC1rRFEOdA1vqd4zwh4YzByl3VAI83o6JWAE2-pQtM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:13+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" .
}