Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A1299delFs
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ATM

NM_000051.4:p.A1299delFs

Associated Papers

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

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

Clinical complications and their management in a child with ataxia-telangiectasia (A-T): A case report study.

Heidarzadeh Arani M et al.

Clinical Case Reports, 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

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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."