Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1978K
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ATM

NM_000051.4:p.E1978K

Associated Papers

Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).

Sikhayeva N et al.

Journal of Clinical Medicine, 2025

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

Baitokova Z et al.

Journal of Mother and Child, 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."