Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.I2683T
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ATM

NM_000051.4:p.I2683T

Associated Papers

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.

Zhou Q et al.

Frontiers in Genetics, 2024

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Liu ZJ et al.

Frontiers in Pediatrics, 2023

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_8.xlsx › Sheet1

[Lymphoma in a pediatric patient with ataxia-telangiectasia in a family of two cases].

Zhao WH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

[Report of 3 cases with ataxia-telangiectasia in a family].

Xiao ZH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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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."