Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2delFs
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ATM

NM_000051.4:p.S2delFs

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

Ganguly J et al.

Movement Disorders Clinical Practice, 2022

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

Moeini Shad T et al.

Frontiers in Immunology, 2021

Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

Cavaciuti E et al.

Genes, Chromosomes & Cancer, 2005

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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."