Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2A
Variant:p.T330delFs
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PI4K2A

NM_018425.4:p.T330delFs

Associated Papers

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.

Maroofian R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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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."