Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2080fs
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ATM

NM_000051.4:p.Y2080fs

Associated Papers

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s297.xlsx › Complete_ATM_Variants

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Pal T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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