CRISPR-targeting introduced a point mutation (CCC to ACT) that results in the amino acid substitution of proline with threonine in addition to a silent mutation. This mutation has been identified in patients with schizophrenia. (J:316319)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count