Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1862H
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ATM

NM_000051.4:p.L1862H

Associated Papers

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Tariq H et al.

Journal of Clinical Neurology (seoul, Korea), 2018

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Roohi J et al.

Journal of Human Genetics, 2017

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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."