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A germline chromothripsis event stably segregating in 11 individuals through three generations.
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
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Chromosome instability syndromes.
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NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.
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T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.