Varaico: Literature-Extracted Genetic Variants

Gene:ADAT2
Variant:p.E73A
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ADAT2

NM_182503.3:p.E73A

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

40120092 (PubMed )
Supplement: awaf109_supplementary_data.zip › brain-2024-02790-File009.pdf

Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.

Del-Pozo-Rodriguez J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The structure of the mouse ADAT2/ADAT3 complex reveals the molecular basis for mammalian tRNA wobble adenosine-to-inosine deamination.

Ramos-Morales E et al.

Nucleic Acids Research, 2021

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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."