Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.
Dineshani HettiarachchiHetalkumar PanchalB A P S PathiranaP D RathnayakaA PadeniyaPoh-San LaiVajira H W DissanayakePublished in: Case reports in genetics (2020)
We report novel ATM gene variants that have implications on the molecular diagnosis of ataxia telangiectasia.