Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N1183fs
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ATM

NM_000051.4:p.N1183fs

Associated Papers

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Fiorica PN et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Rawat A et al.

Scientific Reports, 2022

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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."