Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2969*
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ATM

NM_000051.4:p.Y2969*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

Badalzadeh M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2025

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Salami F et al.

Journal of Clinical Immunology, 2025

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing.

Heidari M et al.

Current Genomics, 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."