Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2A
Variant:p.R309*
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PI4K2A

NM_018425.4:p.R309*

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

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Dai J et al.

Journal for Immunotherapy of Cancer, 2023

36593066 (PubMed )
Supplement: jitc-2022-005937supp007.xls › Supplemental_Table_3

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Dafsari HS et al.

Annals of Clinical and Translational Neurology, 2022

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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."