@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM
> .
@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/v3.0.0/void/
> .
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_head
{
this:
np:hasAssertion
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_assertion
;
np:hasProvenance
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_provenance
;
np:hasPublicationInfo
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_assertion
a
np:Assertion
.
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_provenance
a
np:Provenance
.
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_assertion
{
miriam-gene:58
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGNef0ded62c44967e0914a4925b81ba7b3
sio:SIO_000628
miriam-gene:58
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_provenance
{
dgn-np:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_assertion
dcterms:description
"[In addition to a new ACTA1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle 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:20303757
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP221423.RAlHFqHj_2Fac6wSDeHp3anoQnXP7jR1wAcYZ87YS-csM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:46+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}