Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1922fs
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ATM

NM_000051.4:p.P1922fs

Associated Papers

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.

Jenni R et al.

Journal of Translational Medicine, 2026

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

Worth PF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."