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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 Dissanayake
Published in: Case reports in genetics (2020)
We report novel ATM gene variants that have implications on the molecular diagnosis of ataxia telangiectasia.
Keyphrases
  • copy number
  • dna damage
  • genome wide
  • dna repair
  • early onset
  • dna damage response
  • genome wide identification
  • dna methylation
  • oxidative stress