Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N3003_R3012delFs
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ATM

NM_000051.4:p.N3003_R3012delFs

Associated Papers

ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution.

Royo R et al.

Blood Cancer Journal, 2022

35672297 (PubMed )
Supplement: 41408_2022_686_MOESM2_ESM.xlsx › Table_S4._ATM_germline

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A et al.

Human Mutation, 2019

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

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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."