Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N246fs
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ATM

NM_000051.4:p.N246fs

Associated Papers

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM et al.

Human Mutation, 2012

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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."