Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A2386E
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ATM

NM_000051.4:p.A2386E

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone.

Biagiotti S et al.

Frontiers in Genetics, 2021

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A et al.

Human Mutation, 2019

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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."