Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
mutant
|
gptkbp:alsoKnownAs |
gptkb:F508del
|
gptkbp:associatedWith |
cystic fibrosis
|
gptkbp:deletedAminoAcid |
phenylalanine
|
gptkbp:discoveredIn |
1989
|
gptkbp:frequencyInCFPatients |
~70%
|
https://www.w3.org/2000/01/rdf-schema#label |
ΔF508
|
gptkbp:mostCommonCFMutation |
true
|
gptkbp:mutationAssociatedWith |
deletion
|
gptkbp:mutationPosition |
508
|
gptkbp:regulates |
gptkb:CFTR
|
gptkbp:bfsParent |
gptkb:Cystic_fibrosis
|
gptkbp:bfsLayer |
5
|