Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G449A
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ATM

NM_000051.4:p.G449A

Associated Papers

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

Shao L et al.

Frontiers in Neurology, 2023

K13-propeller gene polymorphisms in Plasmodium falciparum parasite population in malaria affected countries: a systematic review of prevalence and risk factors.

Ocan M et al.

Malaria Journal, 2019

Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing.

Mansukhani S et al.

Clinical Chemistry, 2018

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y et al.

Neuromolecular Medicine, 2013

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

Jiang H et al.

Journal of the Neurological Sciences, 2006

[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

Jiang H et al.

Zhonghua Yi Xue Za Zhi, 2005

[ATM gene mutations in Chinese patients with ataxia telangiectasia].

Jiang H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

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