Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L480_W484del5
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ATM

NM_000051.4:p.L480_W484del5

Associated Papers

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.

Amirifar P et al.

Immunological Investigations, 2020

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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."