Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.A196Fs
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ADAT3

NM_138422.4:p.A196Fs

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

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