Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:mutant
|
| gptkbp:alsoKnownAs |
gptkb:F508del
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:deletedAminoAcid |
phenylalanine
|
| gptkbp:discoveredIn |
1989
|
| gptkbp:frequencyInCFPatients |
~70%
|
| gptkbp:mostCommonCFMutation |
true
|
| gptkbp:mutationAssociatedWith |
deletion
|
| gptkbp:mutationPosition |
508
|
| gptkbp:regulates |
gptkb:CFTR
|
| gptkbp:bfsParent |
gptkb:Cystic_fibrosis
gptkb:Cystic_Fibrosis |
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
ΔF508
|