@prefix dct: .
@prefix this: .
@prefix sub: .
@prefix has-source: .
@prefix refers-to: .
@prefix gene-disease-association: .
@prefix xsd: .
@prefix np: .
@prefix wd: .
@prefix prov: .
@prefix pmid: .
@prefix pav: .
@prefix ensembl: .
@prefix omim: .
@prefix ncit: .
@prefix orcid: .
@prefix rdfs: .
sub:head {
this: np:hasAssertion sub:assertion ;
np:hasProvenance sub:provenance ;
np:hasPublicationInfo sub:publicationInfo ;
a np:Nanopublication .
}
sub:assertion {
ensembl:ENSG00000067177 a ncit:C16612 ;
rdfs:label "PHKA1" .
sub:association refers-to: ensembl:ENSG00000067177 , omim:300559 ;
a gene-disease-association: .
}
sub:provenance {
pmid:7874115 dct:title "Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit" .
sub:assertion has-source: pmid:7874115 .
}
sub:publicationInfo {
sub:activity a prov:Activity ;
prov:atLocation wd:Q1137652 .
this: dct:created "2018-04-05T10:17:11.353+02:00"^^xsd:dateTime ;
dct:rights ;
pav:authoredBy orcid:0000-0001-6048-1457 , orcid:0000-0002-7770-620X ;
pav:createdBy orcid:0000-0001-7542-0286 ;
prov:wasGeneratedBy sub:activity .
}