Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L970R
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ATM

NM_000051.4:p.L970R

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

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM et al.

Clinical Genetics, 2015

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM et al.

Human Mutation, 2012

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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."