Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L3035fs
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ATM

NM_000051.4:p.L3035fs

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

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