Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2416L
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ATM

NM_000051.4:p.L2416L

Associated Papers

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.

Caputi C et al.

Movement Disorders Clinical Practice, 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."