Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F1877fs
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ATM

NM_000051.4:p.F1877fs

Associated Papers

Adult Pulmonary Blastoma: A Case Report with Spectrum of Rare Manifestations.

Parkhi M et al.

Turk Patoloji Dergisi, 2024

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

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_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."