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

Josefina Perez Maturo1,2, Marcela Gonzalez Cid3, Lucia Zavala1

  • 1Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA Buenos Aires Argentina.

Movement Disorders Clinical Practice
|August 11, 2020
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ataxia telangiectasia, autosomal recessive ataxias, mild phenotype, NGS ataxia panel, cerebellar ataxia.

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