Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D58E
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ATM

NM_000051.4:p.D58E

Associated Papers

Gain-of-function genetic screen of the kinome reveals BRSK2 as an inhibitor of the NRF2 transcription factor.

Tamir TY et al.

Journal of Cell Science, 2020

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J et al.

Neuromolecular Medicine, 2011

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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."