Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.E251_E252del1
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PNPO

NM_018129.4:p.E251_E252del1

Associated Papers

Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.

Gerik-Celebi HB et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 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."