Statements (13)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:Genetics
|
gptkbp:affects |
disruption of protein function
|
gptkbp:associated_with |
gptkb:Oncology
ovarian cancer |
gptkbp:clinical_trial |
pathogenic
|
https://www.w3.org/2000/01/rdf-schema#label |
BRCA1 4153del A
|
gptkbp:inherits_from |
autosomal dominant
|
gptkbp:is_tested_for |
genetic testing recommended
|
gptkbp:location |
gptkb:BRCA1_gene
|
gptkbp:prevalence |
found in certain populations
|
gptkbp:type |
deletion mutation
|
gptkbp:bfsParent |
gptkb:BRCA1
|
gptkbp:bfsLayer |
6
|