Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.Q274*
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ADAT3

NM_138422.4:p.Q274*

Associated Papers

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Del-Pozo-Rodriguez J et al.

Brain : a Journal of Neurology, 2025

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Rafat K et al.

Scientific Reports, 2025

ADATs: roles in tRNA editing and relevance to disease.

Mao XL et al.

Acta Biochimica Et Biophysica Sinica, 2024

Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.

Ramos J et al.

Rna (new York, N.y.), 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."