Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2762fs
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ATM

NM_000051.4:p.Q2762fs

Associated Papers

[Genomic profiling and personalized approach, utopia or future reality? A clinical case.]

Antonelli G et al.

Recenti Progressi in Medicina, 2020

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

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
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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."