Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2371*
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ATM

NM_000051.4:p.Y2371*

Associated Papers

Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.

Delavari S et al.

Cancers, 2023

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Zhang Q et al.

The Journal of Experimental Medicine, 2022

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia.

Abolhassani H et al.

Journal of Clinical Immunology, 2022

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM1_ESM.pdf
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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."