Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1996*
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ATM

NM_000051.4:p.E1996*

Associated Papers

Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report.

Firtina S et al.

Immunologic Research, 2025

Whole-Exome Sequencing Analysis of Oral Squamous Cell Carcinoma Delineated by Tobacco Usage Habits.

Patel K et al.

Frontiers in Oncology, 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."