Next-generation sequencing
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A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
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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)
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Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
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Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.