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Next-generation sequencing

  • A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
  • Diagnostic Value of Next Generation Sequencing Ataxia Panel as a Part of Multistep Investigation Approach in Sporadic and Autosomal Recessive Cerebellar Ataxias in Russia (P1.8-013)
  • Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
  • Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
  • Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

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Ataxia Telangiectasia
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  • Bibliography
    • Authors
    • Cells and molecules
    • Clinical
    • Country
    • Diseases
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  • What is A-T?
  • News
  • admin@ataxiatelangiectasia.es