Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2066ins1
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ATM

NM_000051.4:p.Q2066ins1

Associated Papers

A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families.

Akram R et al.

Pakistan Journal of Medical Sciences, 2024

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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."