Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2190*
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ATM

NM_000051.4:p.S2190*

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Park S et al.

Scientific Reports, 2023

37142644 (PubMed )
Supplement: 41598_2023_33928_MOESM2_ESM.xlsx › Supplementary_Table_2

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers
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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."