Statements (8)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:aminoAcidChange |
Methionine to another amino acid at position 420
|
| gptkbp:associatedWith |
cystic fibrosis
|
| https://www.w3.org/2000/01/rdf-schema#label |
M420 mutation
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:regulates |
gptkb:CFTR
|
| gptkbp:bfsParent |
gptkb:R1a
|
| gptkbp:bfsLayer |
6
|