Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2860P
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ATM

NM_000051.4:p.S2860P

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

[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."