CRISPR/Cas9 genome editing is used to introduce a G348C amino acid substitution. In humans, the G348C substitution is associated with amyotrophic lateral sclerosis. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count