Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2828delFs
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ATM

NM_000051.4:p.Q2828delFs

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Cirillo E et al.

Journal of Clinical Immunology, 2022

Side-by-side comparison of next-generation sequencing, cytology, and histology in diagnosing locally advanced pancreatic adenocarcinoma.

Carrara S et al.

Gastrointestinal Endoscopy, 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

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH et al.

Clinical Immunology (orlando, Fla.), 2017

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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."