CHAKRABORTY, ARNAB; DEVARAJAN, ARCHIT; KUMAR, KUNDAN; C. S., ROHITH; MADHUSUDHAN, M. S.; RATNAPARKHI, GIRISH S.; KAMAT, SIDDHESH S.
(American Chemical Society, 2025-03)
In humans, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract) is an early onset autosomal recessive neurological disorder caused by deleterious mutations to ABHD12 (α/β-hydrolase domain protein ...