Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C252_E253delFs
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ATM

NM_000051.4:p.C252_E253delFs

Associated Papers

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Anaclerio F et al.

Frontiers in Genetics, 2023

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

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A et al.

The Journal of Clinical Investigation, 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."