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(Arg116Pro) has a Combined Annotation Dependent Depletion (CADD) score (v1.6) of 31 (Kircher et al., 2014) and is predicted as deleterious by multiple in silico-prediction programs and classified as a variant of uncertain significance, according to the ACMG classification criteria PM2, PP1, PP3, and PP4 (Richards et al., 2015)

[Google Scholar] 105.Muller F.L., Liu Y., Abdul-Ghani M.A., Lustgarten M.S., Bhattacharya A., Jang Y.C., Van Remmen H

it performs various functions, controlling sleep patterns, adjusting the circadian rhythm, contributing to the immune response, protecting oocytes from ROS, and is also considered a free radical eliminator and an endogenous antioxidant

The experiments were performed using five vitiligo and control fibroblasts from short-term cultures (IIX cell culture passages)