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Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again.

Josefina Perez MaturoMarcela Gonzalez CidLucia ZavalaSergio Rodriguez QuirogaMarcelo Andres Kauffman
Published in: Movement disorders clinical practice (2020)
Keyphrases
  • copy number
  • dna damage
  • dna repair
  • dna damage response
  • early onset
  • gene expression
  • dna methylation
  • genome wide