Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.I10fs
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ATM

NM_000051.4:p.I10fs

Associated Papers

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.

Bakır DB et al.

Orphanet Journal of Rare Diseases, 2025

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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."