@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8
> .
@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:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_head
{
this:
np:hasAssertion
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_assertion
;
np:hasProvenance
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_assertion
a
np:Assertion
.
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_provenance
a
np:Provenance
.
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_assertion
{
miriam-gene:23347
a
ncit:C16612
.
lld:C0238288
a
ncit:C7057
.
dgn-gda:DGN90153024f3b0b33dddd36294385b16dc
sio:SIO_000628
miriam-gene:23347
,
lld:C0238288
;
a
sio:SIO_001121
.
}
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_provenance
{
dgn-np:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_assertion
dcterms:description
"[Given the previous report of SMCHD1 mutations in FSHD2 and the clinical presentations consistent with the FSHD phenotype, we conclude that the SMCHD1 mutation is the likely cause of the disease in this family.]. 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:24128691
;
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:NP1119543.RATMAjohN8uE51ZkC7W_q8zJPe9Bw6_8wGo-Za76HAlR8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:13+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" .
}