@prefix dc: .
@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:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_head {
this: np:hasAssertion dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_assertion;
np:hasProvenance dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_provenance;
np:hasPublicationInfo dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_publicationInfo;
a np:Nanopublication .
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_assertion a np:Assertion .
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_provenance a np:Provenance .
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_assertion {
miriam-gene:3074 a ncit:C16612 .
lld:C0036161 a ncit:C7057 .
dgn-gda:DGN7f1c3fc346dbbac831b71b1ae66b25c2 sio:SIO_000628 miriam-gene:3074, lld:C0036161;
a sio:SIO_001122 .
}
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_provenance {
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_assertion dc:description
"[Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.]. 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:8950198;
prov:wasDerivedFrom dgn-void:uniprot-20150221;
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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP1246.RAbV6zVKTX70VXmUj4BJzBMnOK-LCOGvwER1dOq1-IIHY130_publicationInfo {
this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
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 "v3.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}