Statements (8)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:mutant
|
| gptkbp:aminoAcidChange |
Histidine to Arginine at position 46
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
|
| gptkbp:foundIn |
humans
|
| gptkbp:mutationAssociatedWith |
gptkb:SOD1_gene
|
| gptkbp:bfsParent |
gptkb:SOD1
|
| gptkbp:bfsLayer |
5
|
| https://www.w3.org/2000/01/rdf-schema#label |
H46R
|