CRISPR/Cas9 technology generated an A to C change resulting in a glutamine to proline substitution at residue 65 (p.Q65P) in exon 3. This corresponds to a common human variant associated with decreased risk of developing Parkinson's disease. (J:304120)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count