Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1789delFs
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ATM

NM_000051.4:p.L1789delFs

Associated Papers

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

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

Stankovic T et al.

American Journal of Human Genetics, 1998

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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."