Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N768_E769insFs
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ATM

NM_000051.4:p.N768_E769insFs

Associated Papers

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

Caputi C et al.

Movement Disorders Clinical Practice, 2023

Identifying ataxia-telangiectasia in cancer patients: Novel insights from an interesting case and review of literature.

Cao J et al.

Clinical Case Reports, 2021

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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."