Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G1329fs
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ATM

NM_000051.4:p.G1329fs

Associated Papers

Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation.

Lee AYS et al.

Oxford Medical Case Reports, 2023

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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."