Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2069*
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ATM

NM_000051.4:p.Q2069*

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

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Krenn M et al.

Neurology. Genetics, 2019

Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Sosonkina N et al.

Genes & Genomics, 2014

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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."