Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2087delFs
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ATM

NM_000051.4:p.E2087delFs

Associated Papers

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

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › BRCA2

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Fang M et al.

Journal of Clinical Immunology, 2022

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

Amirifar P et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Zaki-Dizaji M et al.

Oman Medical Journal, 2020

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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."