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Ataksja teleangiektazja
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  • Ataxia telangiectasia: more variation at clinical and cellular levels.
  • Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
  • Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
  • Genetics of ataxia telangiectasia in a highly consanguineous population

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