@prefix this: <
http://purl.org/np/RAnh_Mqx6r4mz117A9sLzQ6u7osaV7NfQGrmYMUBoVc90
> .
@prefix sub: <
http://purl.org/np/RAnh_Mqx6r4mz117A9sLzQ6u7osaV7NfQGrmYMUBoVc90#
> .
@prefix has-source: <
http://semanticscience.org/resource/SIO_000253
> .
@prefix refers-to: <
http://semanticscience.org/resource/SIO_000628
> .
@prefix gene-disease-association: <
http://semanticscience.org/resource/SIO_000983
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix wd: <
https://www.wikidata.org/entity/
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pmid: <
http://identifiers.org/pubmed/
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix ensembl: <
http://identifiers.org/ensembl/
> .
@prefix omim: <
http://identifiers.org/omim/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
sub:head
{
this:
np:hasAssertion
sub:assertion
;
np:hasProvenance
sub:provenance
;
np:hasPublicationInfo
sub:publicationInfo
;
a
np:Nanopublication
.
}
sub:assertion
{
ensembl:ENSG00000133424
a
ncit:C16612
;
rdfs:label
"LARGE" .
sub:association
refers-to:
ensembl:ENSG00000133424
,
omim:608840
;
a
gene-disease-association:
.
}
sub:provenance
{
pmid:12966029
dcterms:title
"Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan" .
sub:assertion
has-source:
pmid:12966029
.
}
sub:publicationInfo
{
sub:activity
a
prov:Activity
;
prov:atLocation
wd:Q1137652
.
this:
dcterms:created
"2018-04-05T10:17:11.353+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://creativecommons.org/publicdomain/zero/1.0/
> ;
pav:authoredBy
orcid:0000-0001-6048-1457
,
orcid:0000-0002-7770-620X
;
pav:createdBy
orcid:0000-0001-7542-0286
;
prov:wasGeneratedBy
sub:activity
.
}