Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:ΔF508
|
| gptkbp:aminoAcidPosition |
508
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:deletesAminoAcid |
phenylalanine
|
| gptkbp:firstDescribed |
1989
|
| https://www.w3.org/2000/01/rdf-schema#label |
F508del
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mostCommonCFMutation |
true
|
| gptkbp:mutationAssociatedWith |
deletion
|
| gptkbp:regulates |
gptkb:CFTR
|
| gptkbp:bfsParent |
gptkb:ΔF508
|
| gptkbp:bfsLayer |
6
|