Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R2436Splc
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ATM

NM_000051.4:p.R2436Splc

Associated Papers

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

Amirifar P et al.

Journal of Clinical Immunology, 2022

34628594 (PubMed )
Supplement: 10875_2021_1147_MOESM1_ESM.docx

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

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

Saeidi K et al.

Iranian Journal of Child Neurology, 2018

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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."