Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2389*
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ATM

NM_000051.4:p.S2389*

Associated Papers

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.

Zhang C et al.

Journal of Medical Genetics, 2023

36627197 (PubMed )
Supplement: jmg-2022-108816supp001.pdf

Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

Gonzalez-Farre B et al.

The American Journal of Surgical Pathology, 2023

36221796 (PubMed )
Supplement: pas-47-202-s007.xlsx › Suppl_Table_4

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review.

Shao L et al.

Frontiers in Neurology, 2023

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y et al.

Neuromolecular Medicine, 2013

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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."