@prefix dct: .
@prefix orcid: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_head {
this: np:hasAssertion dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_assertion;
np:hasProvenance dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_provenance;
np:hasPublicationInfo dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_publicationInfo;
a np:Nanopublication .
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_assertion a np:Assertion .
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_provenance a np:Provenance .
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_assertion {
miriam-gene:1277 a ncit:C16612 .
lld:C0023931 a ncit:C7057 .
dgn-gda:DGN073be216b405f089c9dbaee34245e593 sio:SIO_000628 miriam-gene:1277, lld:C0023931;
a sio:SIO_001122 .
}
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_provenance {
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_assertion dct:description
"[An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:1737847;
prov:wasDerivedFrom dgn-void:uniprot-20130724;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}
dgn-np:NP1269.RAUN7aJrH2bY7fKIxtkY_uc9hgagVzwOYw1VKGm4ALgsk130_publicationInfo {
this: dct:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}