Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S974Splc
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ATM

NM_000051.4:p.S974Splc

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

35095854 (PubMed )
Supplement: DataSheet_1.pdf

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M et al.

Clinical Neurology and Neurosurgery, 2020

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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."